ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.42901037A>G
CA399650967
G6PC1
c.161A>G (p.Gln54Arg)
n.226A>G
dbSNP
gnomAD v4
17
g.42901037A>C
CA16041843
G6PC1
c.161A>C (p.Gln54Pro)
n.226A>C
ClinVar
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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