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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PTS Q03393 p.Asn52Ser rs104894275 BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
3i2b
E
Detail
0.18 (T)
0.999 (D)
D ( Predicted by rules : 1 )