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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102877467G>A
CA229540
PAH
c.436C>T (p.His146Tyr)
c.421C>T (p.His141Tyr)
n.532C>T
c.420C>T
n.525C>T
ClinVar
dbSNP
gnomAD v4
12
g.102877467G=
CA2059462460
PAH
c.436C= (p.His146=)
c.421C= (p.His141=)
n.532C=
c.420C=
n.525C=
dbSNP
Number of alleles fetched
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