Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102852903G>TCA481331533PAHc.754C>A (p.Arg252=)
c.739C>A (p.Arg247=)
n.513C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102852903G>ACA251529PAHc.754C>T (p.Arg252Trp)
c.739C>T (p.Arg247Trp)
n.513C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852903G>CCA229742PAHc.754C>G (p.Arg252Gly)
c.739C>G (p.Arg247Gly)
n.513C>G
ClinVar dbSNP

Number of alleles fetched