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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852839G>A
CA229785
PAH
c.818C>T (p.Ser273Phe)
c.803C>T (p.Ser268Phe)
n.577C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.102852839G=
CA2059446220
PAH
c.818C= (p.Ser273=)
c.803C= (p.Ser268=)
n.577C=
dbSNP
Number of alleles fetched
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