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: PA2829694401

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 230483

ClinVar RCV Id: RCV000218736 RCV002519674

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Gln1373Glu	CA10580528 NM_007297.4:c.4117C>G