Allele Registry

Canonical Allele Identifier: PA2827476361

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000562481

RCV002527982

ClinVar Variation:

479539

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Lys253Asn	CA411099816 NM_001349956.2:c.759A>T CA411099817 NM_001349956.2:c.759A>C