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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.70942473A>G
CA261139
SMN1
c.389A>G (p.Tyr130Cys)
c.274-245A>G (n.274-245A>G)
n.2A>G
ClinVar
dbSNP
5
g.70942473A=
CA1554171495
SMN1
c.389A= (p.Tyr130=)
c.274-245A= (n.274-245A=)
n.2A=
dbSNP
Number of alleles fetched
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