Allele Registry

Canonical Allele Identifier: PA2827478478

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

152159

ClinVar RCV:

RCV000131571

RCV000203702

RCV000586318

RCV001175355

RCV004528859

ClinVar Variation:

142445

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Asp430Asn	CA168377 NM_001349956.2:c.1288G>A