omia.variant:139

Genomic description: NC_058383.1:g.[16005726T>G;16005729C>T]

Coding DNA description: NM_001009310.1:c.[1423T>G;1426C>T]

Protein description: NP_001009310.1:p.(S475_R476delinsAW)

Gene: GUSB

Phenes where this variant occurs: