Allele Registry

Canonical Allele Identifier: PA2827478553

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

151432

ClinVar RCV:

RCV000130339

RCV000393706

RCV000475981

RCV003150950

ClinVar Variation:

141718

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Ser438Pro	CA166219 NM_001349956.2:c.1312T>C