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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852917C>T
CA229734
PAH
c.740G>A (p.Gly247Asp)
c.725G>A (p.Gly242Asp)
n.499G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
12
g.102852917C>A
CA229736
PAH
c.740G>T (p.Gly247Val)
c.725G>T (p.Gly242Val)
n.499G>T
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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