Allele Registry

Canonical Allele Identifier: PA2827477191

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000568640

RCV003607312

ClinVar Variation:

481128

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Val332Phe	CA411096785 NM_001349956.2:c.994G>T