Allele Registry

Canonical Allele Identifier: PA168378

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000131571

RCV000203702

RCV000586318

RCV001175355

RCV004528859

ClinVar Variation:

142445

HGVS (amino-acid)	Matching Registered Transcripts
NP_009125.1:p.Asp497Asn	CA168377 NM_007194.4:c.1489G>A