omia.variant:1042
Genomic description: NC_040260.1:g.[91651651A>C;91651669A>T]
Coding DNA description: XM_012184130.2:c.[2042T>A;2060T>G]
Protein description: XP_012039520.2:p.[(I681N);(I687S)]
Gene: TMEM67
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