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: PA2829692754

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 187054

ClinVar RCV Id: RCV000166741 RCV000469615 RCV000759521

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Ser1096Cys	CA002217 NM_007297.4:c.3287C>G