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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50626154C>T
CA10324863
ARSA
c.979G>A (p.Gly327Ser)
c.721G>A (p.Gly241Ser)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
22
g.50626154C>A
CA412174211
ARSA
c.979G>T (p.Gly327Cys)
c.721G>T (p.Gly241Cys)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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