ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139732469
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
862098
ClinVar RCV Id:
RCV001068758
RCV003158413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1050Gly
CA10595687
NM_007300.4:c.3148A>G