Allele Registry

Canonical Allele Identifier: PA2830300359

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000579658

RCV001211302

ClinVar Variation:

489883

HGVS (amino-acid)	Matching Registered Transcripts
NP_665861.1:p.Arg180Leu	CA411107218 NM_145862.2:c.539G>T