Allele Registry

Canonical Allele Identifier: PA2830303046

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

181091

ClinVar RCV:

RCV000160440

RCV000205886

RCV000213437

RCV001356202

RCV002265635

ClinVar Variation:

182440

HGVS (amino-acid)	Matching Registered Transcripts
NP_665861.1:p.Glu472Lys	CA299092 NM_145862.2:c.1414G>A