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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 BCKDHA P12694 p.Gly249Ser rs137852874 MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA [MIM:608348#0006]
2bff
A
Detail
0.08 (T)
0.145 (N)
D ( Predicted by rules : 1 )