Allele Registry

Canonical Allele Identifier: PA915954641

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000223247

RCV000471573

ClinVar Variation:

232934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005735.1:p.Val511Ile	CA10581028 NM_001005735.2:c.1531G>A