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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.70942389G>A
CA254685
SMN1
c.305G>A (p.Trp102Ter)
c.274-329G>A (n.274-329G>A)
ClinVar
dbSNP
5
g.70942389G=
CA1554171489
SMN1
c.305G= (p.Trp102=)
c.274-329G= (n.274-329G=)
dbSNP
Number of alleles fetched
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