ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268481
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55730
ClinVar RCV Id:
RCV000112800
RCV001307845
RCV002433547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His279Arg
CA003930
NM_007294.4:c.836A>G