Allele Registry

Canonical Allele Identifier: PA294042

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000129382

RCV000206734

RCV000212464

RCV000781308

RCV001356630

RCV002483259

RCV004528850

ClinVar Variation:

141046

HGVS (amino-acid)	Matching Registered Transcripts
NP_009125.1:p.Phe475Ile	CA294041 NM_007194.4:c.1423T>A