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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855307A>T
CA229613
PAH
c.535T>A (p.Tyr179Asn)
c.520T>A (p.Tyr174Asn)
n.631T>A
n.556T>A
ClinVar
dbSNP
gnomAD v3
gnomAD v4
12
g.102855307A>G
CA229615
PAH
c.535T>C (p.Tyr179His)
c.520T>C (p.Tyr174His)
n.631T>C
n.556T>C
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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