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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50626052C>T
CA412172524
ARSA
c.991G>A (p.Glu331Lys)
c.733G>A (p.Glu245Lys)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
22
g.50626052C>A
CA278427
ARSA
c.991G>T (p.Glu331Ter)
c.733G>T (p.Glu245Ter)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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