Allele Registry

Canonical Allele Identifier: PA915954510

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000217861

RCV000485639

RCV000539842

RCV000766899

ClinVar Variation:

233743

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005735.1:p.Cys463Tyr	CA10581044 NM_001005735.2:c.1388G>A