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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PRF1 P14222 p.Cys279Tyr rs104894182 Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]
3nsj
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )