Allele Registry

Canonical Allele Identifier: PA2830303129

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000116004

RCV000200569

RCV000212472

RCV000764368

RCV000781300

RCV003483482

RCV004528805

ClinVar Variation:

128063

HGVS (amino-acid)	Matching Registered Transcripts
NP_665861.1:p.Pro480Ser	CA288288 NM_145862.2:c.1438C>T