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: PA916000539

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409318

ClinVar RCV Id: RCV000510024 RCV000588993 RCV000467857 RCV002222516

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Asp1343Val	CA059047 NM_007300.4:c.4028A>T