Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102852902C>TCA229743PAHc.755G>A (p.Arg252Gln)
c.740G>A (p.Arg247Gln)
n.514G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102852902C>GCA16020854PAHc.755G>C (p.Arg252Pro)
c.740G>C (p.Arg247Pro)
n.514G>C
 ClinVar dbSNP

Number of alleles fetched