P218R (p.Pro218Arg) variant of SMN1 (Survival motor neuron protein)
P218R (p.Pro218Arg) in SMN1 (Survival motor neuron protein) is a missense change.
P218R (p.Pro218Arg) variant details
- p.Pro218Arg
- Ensembl rs1749518980
- Missense
P218R (p.Pro218Arg) in SMN1 (Survival motor neuron protein) is a missense change.