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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852942C>G
CA386295849
PAH
c.715G>C (p.Gly239Arg)
c.700G>C (p.Gly234Arg)
n.474G>C
dbSNP
gnomAD v4
12
g.102852942C>T
CA229706
PAH
c.715G>A (p.Gly239Ser)
c.700G>A (p.Gly234Ser)
n.474G>A
ClinVar
dbSNP
Number of alleles fetched
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