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: PA2829694284

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 230250

ClinVar RCV Id: RCV000216025

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Thr1352Ser	CA10580530 NM_007297.4:c.4055C>G CA10593329 NM_007297.4:c.4054A>T