Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 SHH Q15465 p.Ala226Thr rs104894043 Holoprosencephaly type 3 (HPE3) [MIM:142945]
Detail
0.10 (T)
0.971 (D)
N