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: PA658667340

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 479227

ClinVar RCV Id: RCV000561337 RCV000699500

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Asp1343Tyr	CA10593904 NM_007294.4:c.4027G>T