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: PA915996128

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 654531

ClinVar RCV Id: RCV000810514 RCV003158202 RCV003478511

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Asp397Val	CA057074 NM_007300.4:c.1190A>T