clingen-data-model / clinvar-gk-pilot

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Use HGVS Expression as the label field #6

Closed toneillbroad closed 1 year ago

toneillbroad commented 1 year ago

For contextual vrs variants do NOT use the clinvar variation name (that is for the canonicalvariation form of the variant. Instead use the hgvs.nucleotide expression which represents the hgvs string that clinvar lists with each hgvs member of a given clinvar variant (even the genomic build originating variation).

toneillbroad commented 1 year ago

LB implemented this as part of the BQ data feed.