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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50627368C>T
CA115969
ARSA
c.263G>A (p.Gly88Asp)
c.5G>A (p.Gly2Asp)
n.654G>A
ClinVar
dbSNP
gnomAD v2
gnomAD v4
22
g.50627368C=
CA2410959584
ARSA
c.263G= (p.Gly88=)
c.5G= (p.Gly2=)
n.654G=
dbSNP
Number of alleles fetched
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