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: PA2829705974

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 531421

ClinVar RCV Id: RCV000637771

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.Ser334Phe	CA10593099 NM_007298.3:c.1001C>T