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: PA2829711447

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 839084

ClinVar RCV Id: RCV001040769 RCV001509547 RCV002348351

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009230.2:p.Ile180Val	CA10601066 NM_007299.4:c.538A>G