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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 BCKDHA P12694 p.Thr310Arg rs137852875 MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA [MIM:608348#0007]
2bff
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )