G54R (p.Gly54Arg) variant of NOTCH1 (P46531)
G54R (p.Gly54Arg) in NOTCH1 (P46531) is a missense change. The record also includes structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- TOPMed rs1843418768
- Missense
- Structural context available