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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50626706C>T
CA115983
ARSA
c.739G>A (p.Gly247Arg)
c.481G>A (p.Gly161Arg)
n.1316G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
22
g.50626706C=
CA2410959192
ARSA
c.739G= (p.Gly247=)
c.481G= (p.Gly161=)
n.1316G=
dbSNP
Number of alleles fetched
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