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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48596343A>G
CA16043496
FBN1
c.478T>C (p.Cys160Arg)
ClinVar
dbSNP
15
g.48596343A>C
CA392446345
FBN1
c.478T>G (p.Cys160Gly)
ClinVar
dbSNP
gnomAD v2
Number of alleles fetched
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