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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852876G>A
CA229757
PAH
c.781C>T (p.Arg261Ter)
c.766C>T (p.Arg256Ter)
n.540C>T
ClinVar
dbSNP
ExAC
gnomAD
COSMIC
12
g.102852876G>C
CA269921
PAH
c.781C>G (p.Arg261Gly)
c.766C>G (p.Arg256Gly)
n.540C>G
ClinVar
dbSNP
gnomAD
Number of alleles fetched
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