Allele Registry

Canonical Allele Identifier: PA112449

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

480028

ClinVar RCV:

RCV000570223

RCV000698621

ClinVar Variation:

486833

HGVS (amino-acid)	Matching Registered Transcripts
NP_009125.1:p.Thr476Lys	CA411094243 NM_007194.4:c.1427C>A