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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.54845799G>C
CA120284
GCH1
c.595C>G (p.Pro199Ala)
n.743C>G
n.293-2745C>G
c.301C>G (p.Pro101Ala)
ClinVar
dbSNP
14
g.54845799G=
CA2138218967
GCH1
c.595C= (p.Pro199=)
n.743C=
n.293-2745C=
c.301C= (p.Pro101=)
dbSNP
Number of alleles fetched
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