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: PA915996304

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 491029

ClinVar RCV Id: RCV000581830 RCV001295915 RCV003117353

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.His437Tyr	CA057149 NM_007300.4:c.1309C>T