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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.42536414T>C
CA115052
NAGLU
c.142T>C (p.Phe48Leu)
ClinVar
dbSNP
gnomAD v4
17
g.42536414T=
CA2260526733
NAGLU
c.142T= (p.Phe48=)
dbSNP
Number of alleles fetched
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