Allele Registry

Canonical Allele Identifier: PA2827475203

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000568786

RCV000796300

ClinVar Variation:

481729

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Tyr139His	CA411107956 NM_001349956.2:c.415T>C