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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 GBE1 Q04446 p.Arg515Cys rs80338672 Glycogen storage disease type 4 (GSD4) [MIM:232500]
3aml
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )