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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.54902412C>G
CA389793788
GCH1
c.252G>C (p.Glu84Asp)
n.400G>C
n.35G>C
dbSNP
gnomAD v3
gnomAD v4
14
g.54902412C>T
CA486482461
GCH1
c.252G>A (p.Glu84=)
n.400G>A
n.35G>A
ClinVar
dbSNP
Number of alleles fetched
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