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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852920G>A
CA229727
PAH
c.737C>T (p.Ala246Val)
c.722C>T (p.Ala241Val)
n.496C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.102852920G>T
CA229726
PAH
c.737C>A (p.Ala246Asp)
c.722C>A (p.Ala241Asp)
n.496C>A
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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