Allele Registry

Canonical Allele Identifier: PA2827474248

Gene: CHEK2 HGNC NCBI

ClinVar Variation Id: 219642

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Ser49Phe	CA349738 NM_001349956.2:c.146C>T