A123V (p.Ala123Val) variant of GBA1 (P04062)
A123V (p.Ala123Val) in GBA1 (P04062) is a missense change. The record also includes structural context.
A123V (p.Ala123Val) variant details
- p.Ala123Val
- cosmic curated COSV59171
- Missense
- Structural context available