omia.variant:1570
Genomic description: NC_006598.3:g.[6367458_6367478del;6367482del;6367485A>C]
Coding DNA description: NM_001003124.2:c.[703T>G;706del;710_730del]
Protein description: NP_001003124.1:p.[(F235V;V236fs)]
Gene: CLCN1
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