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: PA2829693651

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1462472

ClinVar RCV Id: RCV001968493 RCV003156911

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Cys1244Tyr	CA059134 NM_007297.4:c.3731G>A