ClinGen Allele Registry
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Canonical Allele Identifier:
PA915954530
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133511
ClinVar RCV:
RCV000115993
RCV000197909
RCV000515214
RCV000590008
RCV001147976
RCV001175351
RCV001355460
RCV003492501
RCV004528802
ClinVar Variation:
128054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Tyr467His
CA288272
NM_001005735.2:c.1399T>C