12 | g.102894737del | CA267653 | PAH | c.350del (p.Thr117LysfsTer?) c.335del (p.Thr112LysfsTer?) n.272del n.446del c.334del n.439del
| ClinVar dbSNP |
12 | g.102894737G= | CA2059466549 | PAH | c.350C= (p.Thr117=) c.335C= (p.Thr112=) n.272C= n.446C= c.334C= n.439C=
| dbSNP dbSNP |