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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852845T>C
CA286508
PAH
c.812A>G (p.His271Arg)
c.797A>G (p.His266Arg)
n.571A>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
12
g.102852845T>A
CA267675
PAH
c.812A>T (p.His271Leu)
c.797A>T (p.His266Leu)
n.571A>T
ClinVar
dbSNP
Number of alleles fetched
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