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: PA2829692615

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 531234

ClinVar RCV Id: RCV000637390 RCV001020046

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Glu1068Val	CA10595285 NM_007297.4:c.3203A>T