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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 QDPR P09417 p.Tyr150Cys rs104893866 BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )