Allele Registry

Canonical Allele Identifier: PA2827476275

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

151980

ClinVar RCV:

RCV000131287

RCV000212441

RCV000231753

RCV002271417

RCV002483267

ClinVar Variation:

142266

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Asp244Asn	CA294339 NM_001349956.2:c.730G>A