ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915994130
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
491098
ClinVar RCV Id:
RCV000582258
RCV000637560
RCV001077730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Ser618Tyr
CA10591215
NM_007299.4:c.1853C>A