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: PA2829692432

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1492698

ClinVar RCV Id: RCV001981159 RCV003156991

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Leu1033Phe	CA10595502 NM_007297.4:c.3099G>T CA10595503 NM_007297.4:c.3099G>C