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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PGK1 P00558 p.Gly158Val rs137852532 Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
1vjd
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )