Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102855281C>GCA229626PAHc.561G>C (p.Trp187Cys)
c.546G>C (p.Trp182Cys)
n.657G>C
n.582G>C
 ClinVar dbSNP
12g.102855281C>TCA229624PAHc.561G>A (p.Trp187Ter)
c.546G>A (p.Trp182Ter)
n.657G>A
n.582G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched