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: PA2829688763

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1675671

ClinVar RCV Id: RCV002211400 RCV003157095

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.His390Leu	CA10599432 NM_007297.4:c.1169A>T