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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50626841G>A
CA278030
ARSA
c.677C>T (p.Ala226Val)
c.419C>T (p.Ala140Val)
n.1181C>T
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
22
g.50626841G>T
CA412176905
ARSA
c.677C>A (p.Ala226Asp)
c.419C>A (p.Ala140Asp)
n.1181C>A
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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