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: PA658704422

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 489705

ClinVar RCV Id: RCV000579920 RCV001302591 RCV003338671

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Asp366His	CA10599866 NM_007294.4:c.1096G>C