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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852912G>A
CA273356
PAH
c.745C>T (p.Leu249Phe)
c.730C>T (p.Leu244Phe)
n.504C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.102852912G=
CA2059446581
PAH
c.745C= (p.Leu249=)
c.730C= (p.Leu244=)
n.504C=
dbSNP
dbSNP
Number of alleles fetched
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