Update Human Genome Variation Society Nomenclature

[miseminger]

Prefix

hgvs

Explanation

Thanks, @cthoyt!

In looking at the Example Local Unique Identifiers just now, I noticed that two of them resolve, but the examples with parentheses in the reference sequence identifier part either give "InternalServerError" with message "Unknown reference" (3 examples) or "HgvsParsingError" (for NG_012337.3(NM_003002.4):r.(274g>u)).

I tried searching http://reg.clinicalgenome.org for "NG_012337.3:r.(274g>u)" and "NM_003002.4:r.(274g>u)" separately, but it came up empty. I'm suspecting ClinGen has records for many HGVS format mutations (>650 million as of 2018) but still missing a few?

All to suggest switching the default resolver to be Mutalyzer3, which can resolve all HGVS names, especially as it's listed on the HGVS Software page.

Thanks again,
Madeline

(Originally a comment to #1032, moved here for tidiness; apologies if I've caused a double issue)

Contributor ORCID

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