ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998668
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481455
ClinVar RCV Id:
RCV000568879
RCV000792546
RCV004000920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys947Arg
CA058260
NM_007300.4:c.2840A>G