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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 FGFR3 P22607 p.Asn540Lys rs28933068 Hypochondroplasia (HCH) [MIM:146000]
3gqi
A
Detail
0.17 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )