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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PAH P00439 p.Ala47Val rs118203925 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
1phz
A
Detail
0.57 (T)
0.011 (N)
D ( Predicted by rules : 1 )