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: PA2499276121

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1059740

ClinVar RCV Id: RCV001369088

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009230.2:p.Ser333Phe	CA059893 NM_007299.4:c.998C>T