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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852863C>T
CA229763
PAH
c.794G>A (p.Cys265Tyr)
c.779G>A (p.Cys260Tyr)
n.553G>A
ClinVar
dbSNP
gnomAD v4
12
g.102852863C=
CA2059446393
PAH
c.794G= (p.Cys265=)
c.779G= (p.Cys260=)
n.553G=
dbSNP
Number of alleles fetched
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