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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.54902522G>A
CA254727
GCH1
c.142C>T (p.Gln48Ter)
n.290C>T
ClinVar
dbSNP
gnomAD v4
14
g.54902522G>T
CA389794184
GCH1
c.142C>A (p.Gln48Lys)
n.290C>A
dbSNP
Number of alleles fetched
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