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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852849T>C
CA229779
PAH
c.808A>G (p.Arg270Gly)
c.793A>G (p.Arg265Gly)
n.567A>G
ClinVar
dbSNP
gnomAD v4
12
g.102852849T=
CA2059446287
PAH
c.808A= (p.Arg270=)
c.793A= (p.Arg265=)
n.567A=
dbSNP
Number of alleles fetched
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