G42A (p.Gly42Ala) variant of NOTCH1 (P46531)
G42A (p.Gly42Ala) in NOTCH1 (P46531) is a missense change. The record also includes structural context.
G42A (p.Gly42Ala) variant details
- p.Gly42Ala
- ExAC rs754666783
- gnomAD rs754666783
- Missense
- Structural context available