Allele Registry

Canonical Allele Identifier: PA2830300377

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

185633

ClinVar RCV:

RCV000164270

RCV000210079

RCV000221179

RCV000459747

RCV001357576

RCV004535095

ClinVar Variation:

184928

HGVS (amino-acid)	Matching Registered Transcripts
NP_665861.1:p.Leu183Phe	CA190500 NM_145862.2:c.549G>C CA411107186 NM_145862.2:c.549G>T