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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102877464G>A
CA229541
PAH
c.439C>T (p.Pro147Ser)
c.424C>T (p.Pro142Ser)
n.535C>T
c.423C>T
n.528C>T
ClinVar
dbSNP
gnomAD v2
gnomAD v4
12
g.102877464G=
CA2059462458
PAH
c.439C= (p.Pro147=)
c.424C= (p.Pro142=)
n.535C=
c.423C=
n.528C=
dbSNP
Number of alleles fetched
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