Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102852929C>TCA251531PAHc.728G>A (p.Arg243Gln)
c.713G>A (p.Arg238Gln)
n.487G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852929C>ACA229719PAHc.728G>T (p.Arg243Leu)
c.713G>T (p.Arg238Leu)
n.487G>T
ClinVar dbSNP

Number of alleles fetched