S129P (p.Ser129Pro) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S129P (p.Ser129Pro) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.
S129P (p.Ser129Pro) variant details
- p.Ser129Pro
- TOPMed rs2086682906
- Missense
S129P (p.Ser129Pro) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.