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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PCBD1 P61457 p.Cys82Arg rs104894177 BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]
1f93
A
Detail
0.03 (D)
0.906 (D)
D ( Predicted by rules : 1 )