Allele Registry

Canonical Allele Identifier: PA2825276479

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000582495

RCV001056853

ClinVar Variation:

491618

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005735.1:p.Cys18Ser	CA411091856 NM_001005735.2:c.53G>C CA411091865 NM_001005735.2:c.52T>A