ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50626057G>C
CA412172611
ARSA
c.986C>G (p.Thr329Ser)
c.728C>G (p.Thr243Ser)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
22
g.50626057G>A
CA278425
ARSA
c.986C>T (p.Thr329Ile)
c.728C>T (p.Thr243Ile)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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