S78A (p.Ser78Ala) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S78A (p.Ser78Ala) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.
S78A (p.Ser78Ala) variant details
- p.Ser78Ala
- TOPMed rs2086710984
- Missense
S78A (p.Ser78Ala) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.