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: PA191481

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185265

ClinVar RCV Id: RCV000164654

ClinVar Variation Id: 246518

ClinVar RCV Id: RCV000235503 RCV000773214 RCV001045675 RCV003493550

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Gln1857His	CA003725 NM_007294.4:c.5571G>C CA10584544 NM_007294.4:c.5571G>T