Allele Registry

Canonical Allele Identifier: PA915954667

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000129382

RCV000206734

RCV000212464

RCV000781308

RCV001356630

RCV002483259

RCV004528850

ClinVar Variation:

141046

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005735.1:p.Phe518Ile	CA294041 NM_001005735.2:c.1552T>A