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: PA2829693788

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3226147

ClinVar RCV Id: RCV004519382

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Thr1260Ile	CA10594119 NM_007297.4:c.3779C>T