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
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