E12K (p.Glu12Lys) variant of CLCN1 (Chloride channel protein 1)
E12K (p.Glu12Lys) in CLCN1 (Chloride channel protein 1) is a missense change. The record also includes structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- Ensembl rs1802288634
- Missense
- Structural context available