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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48485418C>T
CA014399
FBN1
c.3668G>A (p.Cys1223Tyr)
n.2342G>A
c.637-10768G>A (n.637-10768G>A)
ClinVar
dbSNP
15
g.48485418C>A
CA014439
FBN1
c.3668G>T (p.Cys1223Phe)
n.2342G>T
c.637-10768G>T (n.637-10768G>T)
ClinVar
dbSNP
Number of alleles fetched
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