Allele Registry

Canonical Allele Identifier: PA294340

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000131287

RCV000212441

RCV000231753

RCV002271417

RCV002483267

ClinVar Variation:

142266

HGVS (amino-acid)	Matching Registered Transcripts
NP_009125.1:p.Asp311Asn	CA294339 NM_007194.4:c.931G>A