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: PA2829701757

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 867377

ClinVar RCV Id: RCV001076052

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.His701Asp	CA10590635 NM_007298.3:c.2101C>G