Allele Registry

Canonical Allele Identifier: PA230685

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

132423

ClinVar RCV:

RCV000114766

RCV000116000

RCV000206096

RCV003387763

RCV003492448

ClinVar Variation:

126910

HGVS (amino-acid)	Matching Registered Transcripts
NP_009125.1:p.Arg474His	CA230684 NM_007194.4:c.1421G>A