H27L (p.His27Leu) variant of BBS1 (BBSome complex member BBS1)
H27L (p.His27Leu) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
H27L (p.His27Leu) variant details
- p.His27Leu
- Ensembl rs1855932207
- Missense
- Structural context available