Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 SCN1A P35498 p.Arg377Gln rs121917957 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
1.00 (T)
0.999 (D)
N