Allele Registry

Canonical Allele Identifier: PA2827477154

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000422650

RCV000990387

ClinVar Variation:

376746

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Val328Phe	CA16603152 NM_001349956.2:c.982G>T