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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852887C>A
CA229753
PAH
c.770G>T (p.Gly257Val)
c.755G>T (p.Gly252Val)
n.529G>T
ClinVar
dbSNP
gnomAD v4
12
g.102852887C>T
CA229751
PAH
c.770G>A (p.Gly257Asp)
c.755G>A (p.Gly252Asp)
n.529G>A
ClinVar
dbSNP
Number of alleles fetched
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