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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50626228C>T
CA412174737
ARSA
c.905G>A (p.Cys302Tyr)
c.647G>A (p.Cys216Tyr)
ClinVar
dbSNP
gnomAD v4
22
g.50626228C>A
CA116011
ARSA
c.905G>T (p.Cys302Phe)
c.647G>T (p.Cys216Phe)
ClinVar
dbSNP
Number of alleles fetched
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