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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852929C>T
CA251531
PAH
c.728G>A (p.Arg243Gln)
c.713G>A (p.Arg238Gln)
n.487G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.102852929C>A
CA229719
PAH
c.728G>T (p.Arg243Leu)
c.713G>T (p.Arg238Leu)
n.487G>T
ClinVar
dbSNP
Number of alleles fetched
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