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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 BCKDHA P12694 p.Tyr438Asn rs137852870 Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
2bff
A
Detail
0.11 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )