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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 TPP1 O14773 p.Cys365Arg rs119455953 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
3edy
A
Detail
0.18 (T)
0.999 (D)
D ( Predicted by rules : 1 )