ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915994027
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479267
ClinVar RCV Id:
RCV000569177
RCV001072271
RCV001320061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Phe600Tyr
CA10591308
NM_007299.4:c.1799T>A