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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 NKX2-5 P52952 p.Arg190Cys rs104893906 Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]
1qry
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )