omia.variant:137

Genomic description: NC_058378.1:g.[81231649C>T;81246195G>A]

Coding DNA description: XM_003994514.5:c.[140C>T;331G>A]

Protein description: XP_003994563.1:p.[(S47F);(G111S)]

Gene: UROS

Phenes where this variant occurs: