HGVS Nomenclature

[Carolk]

Greetings HGVS members,

I am looking for some guidance on how I can access the human readable HGVS nomenclature tables.

I am working on presenting the content as a terminology taxonomy.

Best regards,

Carol K.

c474...@gmail.com

[Reece Hart]

Hi Carol-

I do not understand what you're asking for or trying to achieve.

The source code for the website is available at https://github.com/HGVSnomenclature/hgvs-nomenclature/. You or a member of your technical support team can likely derive what you need from that.

-Reece

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[Carolk]

Thanks Reece for the prompt response. I was able to use the current stable release from github and generate ~700 HGVS nomenclature examples. 

However, I am uncertain if there is "an approved list" of the nomenclature expressions.

Thanks,

Carol.

[Reece Hart]

Carol -

You haven't described what you're actually trying to achieve other than a list of variant expressions. If you want  a list, you can download variants from lots of places including NCBI.

The paper describes that we are in the process of converting human readable descriptions of variant representation into a formal grammar.

The file syntax.yaml variants that we use as examples. That is probably the closest we can offer you. 

-Reece 

On Tue, Feb 24, 2026, 14:40 Carolk <c474...@gmail.com> wrote:

Thanks Reece for the prompt response. I have looked at the github source code and was able to generate ~700 variant examples. 

I am however uncertain at to whether there is a downloadable list of HGVS Nomenclature variant expressions.

Thanks,

Carol.

On Monday, February 23, 2026 at 11:32:40 AM UTC-6 re...@harts.net wrote: