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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48474300A>C
CA014826
FBN1
c.4165T>G (p.Cys1389Gly)
n.2839T>G
c.837T>G (p.Ala279=)
ClinVar
dbSNP
15
g.48474300A>G
CA392320162
FBN1
c.4165T>C (p.Cys1389Arg)
n.2839T>C
c.837T>C (p.Ala279=)
dbSNP
Number of alleles fetched
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