ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953554
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128076
ClinVar RCV Id:
RCV000116019
RCV000766748
RCV001292859
RCV000464571
RCV003444201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ile203Arg
CA288310
NM_001005735.2:c.608T>G