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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48503843G>A
CA392338264
FBN1
c.2057C>T (p.Ala686Val)
n.731C>T
c.637-29193C>T (n.637-29193C>T)
dbSNP
15
g.48503843G>T
CA012756
FBN1
c.2057C>A (p.Ala686Asp)
n.731C>A
c.637-29193C>A (n.637-29193C>A)
ClinVar
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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