Allele Registry

Canonical Allele Identifier: PA2830301999

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000115987

RCV000212454

RCV000230538

RCV001270934

RCV003114262

ClinVar Variation:

128049

HGVS (amino-acid)	Matching Registered Transcripts
NP_665861.1:p.Val366Leu	CA288264 NM_145862.2:c.1096G>C