Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102855160C>ACA16020838PAHc.682G>T (p.Glu228Ter)
c.667G>T (p.Glu223Ter)
n.778G>T
 ClinVar dbSNP
12g.102855160C>TCA267669PAHc.682G>A (p.Glu228Lys)
c.667G>A (p.Glu223Lys)
n.778G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched