ClinGen Allele Registry
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Canonical Allele Identifier:
PA112349
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005940
RCV000116016
RCV000120554
RCV000197612
RCV000381571
RCV000505730
RCV000587420
RCV001358124
RCV003149565
RCV003162212
RCV003224854
ClinVar Variation:
5592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Arg145Trp
CA117632
NM_007194.4:c.433C>T