Allele Registry

Canonical Allele Identifier: PA2826445097

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

236599

ClinVar RCV:

RCV000223247

RCV000471573

ClinVar Variation:

232934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001244316.1:p.Val247Ile	CA10581028 NM_001257387.2:c.739G>A