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: PA2829710153

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55541

ClinVar RCV Id: RCV000048948 RCV000112624 RCV000132201 RCV000236823

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Leu1801Pro	CA003508 NM_007300.4:c.5402T>C