H47R (p.His47Arg) variant of BBS1 (BBSome complex member BBS1)
H47R (p.His47Arg) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
H47R (p.His47Arg) variant details
- p.His47Arg
- Ensembl rs922934188
- Missense
- Structural context available