Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2741933801

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2691148

ClinVar RCV Id: RCV003493304 RCV004364902

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_009231.2:p.Leu791Pro