Allele Registry

Canonical Allele Identifier: PA117637

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000005943

ClinVar Variation:

5595

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005735.1:p.Ala17Ser	CA117636 NM_001005735.2:c.49G>T