ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510079
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438911
ClinVar RCV Id:
RCV000506462
RCV001857246
RCV002395219
RCV004003535
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys501Thr
CA10599042
NM_007294.4:c.1502A>C