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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 ATP1A2 P50993 p.Thr378Asn rs28934002 Alternating hemiplegia of childhood (AHC) [MIM:104290]
3b8e
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )