C30F (p.Cys30Phe) variant of CLCN1 (Chloride channel protein 1)
C30F (p.Cys30Phe) in CLCN1 (Chloride channel protein 1) is a missense change. The record also includes structural context.
C30F (p.Cys30Phe) variant details
- p.Cys30Phe
- TOPMed rs1802290576
- Missense
- Structural context available