S72R (p.Ser72Arg) variant of NPC1 (O15118)
S72R (p.Ser72Arg) in NPC1 (O15118) is a missense change. The record also includes structural context.
S72R (p.Ser72Arg) variant details
- p.Ser72Arg
- Ensembl rs1416579993
- Missense
- Structural context available
S72R (p.Ser72Arg) in NPC1 (O15118) is a missense change. The record also includes structural context.