A102G (p.Ala102Gly) variant of BBS2 (BBSome complex member BBS2)
A102G (p.Ala102Gly) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
A102G (p.Ala102Gly) variant details
- p.Ala102Gly
- Ensembl rs1964676278
- Missense
- Structural context available