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: PA915999278

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 441288

ClinVar RCV Id: RCV000510115 RCV001865670 RCV002469178

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Ala1082Val	CA10595491 NM_007300.4:c.3245C>T