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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855251C>G
CA267662
PAH
c.591G>C (p.Leu197Phe)
c.576G>C (p.Leu192Phe)
n.687G>C
ClinVar
dbSNP
gnomAD v4
12
g.102855251C=
CA2059449554
PAH
c.591G= (p.Leu197=)
c.576G= (p.Leu192=)
n.687G=
dbSNP
Number of alleles fetched
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