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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48516318T>G
CA490028427
FBN1
c.1192A>C (p.Arg398=)
c.636+21393A>C (n.636+21393A>C)
ClinVar
dbSNP
15
g.48516318T>A
CA012019
FBN1
c.1192A>T (p.Arg398Ter)
c.636+21393A>T (n.636+21393A>T)
ClinVar
dbSNP
Number of alleles fetched
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