ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829698933
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489728
ClinVar RCV Id:
RCV000580266
RCV001078131
RCV001254340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ala17Ser
CA10602059
NM_007298.3:c.49G>T