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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 SPTA1 P02549 p.Arg28His rs121918641 Elliptocytosis type 2 (EL2) [MIM:130600]
1owa
A
Detail
0.10 (T)
0.999 (D)
D ( Predicted by rules : 1 )
3 SPTA1 P02549 p.Arg28Leu rs121918641 Elliptocytosis type 2 (EL2) [MIM:130600]
1owa
A
Detail
0.56 (T)
0.112 (N)
D ( Predicted by rules : 1 )