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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102866607G>C
CA16020801
PAH
c.498C>G (p.Tyr166Ter)
c.483C>G (p.Tyr161Ter)
n.594C>G
n.530+10855C>G
ClinVar
dbSNP
12
g.102866607G>T
CA229583
PAH
c.498C>A (p.Tyr166Ter)
c.483C>A (p.Tyr161Ter)
n.594C>A
n.530+10855C>A
ClinVar
dbSNP
Number of alleles fetched
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