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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855210G>A
CA267667
PAH
c.632C>T (p.Pro211Leu)
c.617C>T (p.Pro206Leu)
n.728C>T
ClinVar
dbSNP
gnomAD v4
12
g.102855210G>T
CA386296671
PAH
c.632C>A (p.Pro211Gln)
c.617C>A (p.Pro206Gln)
n.728C>A
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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