Allele Registry

Canonical Allele Identifier: PA299077

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

181104

ClinVar RCV:

RCV000160431

RCV000205583

RCV000221549

ClinVar Variation:

182432

HGVS (amino-acid)	Matching Registered Transcripts
NP_009125.1:p.Asp347Asn	CA299076 NM_007194.4:c.1039G>A