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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855169G>C
CA229686
PAH
c.673C>G (p.Pro225Ala)
c.658C>G (p.Pro220Ala)
n.769C>G
ClinVar
dbSNP
gnomAD v4
12
g.102855169G>T
CA229685
PAH
c.673C>A (p.Pro225Thr)
c.658C>A (p.Pro220Thr)
n.769C>A
ClinVar
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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