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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48600196A>T
CA392446560
FBN1
c.385T>A (p.Cys129Ser)
ClinVar
dbSNP
15
g.48600196A>C
CA014604
FBN1
c.385T>G (p.Cys129Gly)
ClinVar
dbSNP
Number of alleles fetched
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