Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102852819C>TCA251525PAHc.838G>A (p.Glu280Lys)
c.823G>A (p.Glu275Lys)
n.597G>A
ClinVar dbSNP ExAC gnomAD COSMIC
12g.102852819C>GCA229805PAHc.838G>C (p.Glu280Gln)
c.823G>C (p.Glu275Gln)
n.597G>C
ClinVar dbSNP gnomAD

Number of alleles fetched