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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855180T>C
CA229677
PAH
c.662A>G (p.Glu221Gly)
c.647A>G (p.Glu216Gly)
n.758A>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
12
g.102855180T=
CA2059449252
PAH
c.662A= (p.Glu221=)
c.647A= (p.Glu216=)
n.758A=
dbSNP
Number of alleles fetched
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