Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 SCN1A P35498 p.Met1714Arg rs121917949 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
0.986 (D)
N