Allele Registry

Canonical Allele Identifier: PA915953351

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

133530

ClinVar RCV:

RCV000116014

RCV000204285

RCV000254657

RCV000588933

RCV001149532

RCV001798356

ClinVar Variation:

128073

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005735.1:p.Arg180Gln	CA288305 NM_001005735.2:c.539G>A