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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48495520A>T
CA392334450
FBN1
c.2488T>A (p.Cys830Ser)
n.1162T>A
c.637-20870T>A (n.637-20870T>A)
ClinVar
dbSNP
15
g.48495520A>C
CA013135
FBN1
c.2488T>G (p.Cys830Gly)
n.1162T>G
c.637-20870T>G (n.637-20870T>G)
ClinVar
dbSNP
Number of alleles fetched
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