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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50625988T>C
CA115954
ARSA
c.1055A>G (p.Asn352Ser)
c.797A>G (p.Asn266Ser)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
22
g.50625988T=
CA2410958776
ARSA
c.1055A= (p.Asn352=)
c.797A= (p.Asn266=)
dbSNP
Number of alleles fetched
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