L52V (p.Leu52Val) variant of COL17A1 (Collagen alpha-1(XVII) chain)
L52V (p.Leu52Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- Ensembl rs2134658398
- Missense
L52V (p.Leu52Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.