12 | g.102877469T>A | CA229539 | PAH | c.434A>T (p.Asp145Val) c.419A>T (p.Asp140Val) n.530A>T c.418A>T n.523A>T
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102877469T= | CA2059462462 | PAH | c.434A= (p.Asp145=) c.419A= (p.Asp140=) n.530A= c.418A= n.523A=
| dbSNP |