Allele Registry

Canonical Allele Identifier: PA2827475457

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000573178

RCV001217899

ClinVar Variation:

485517

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Glu172Gln	CA411103385 NM_001349956.2:c.514G>C