omia.variant:1889

Genomic description: NC_010447.5:g.[78361637del;78361641C>T]

Coding DNA description: XM_021092611.1:c.[1744G>A;1749del]

Protein description: XP_020948270.1:p.[(G582S;D584fs)]

Gene: COL2A1

Phenes where this variant occurs: