ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827478803
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000200863
RCV000777665
RCV001255545
RCV001564935
ClinVar Variation:
216642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Gly462Asp
CA339590
NM_001349956.2:c.1385G>A