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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48513591G>T
CA490028029
FBN1
c.1546C>A (p.Arg516=)
n.220C>A
c.636+24120C>A (n.636+24120C>A)
dbSNP
15
g.48513591G>A
CA012230
FBN1
c.1546C>T (p.Arg516Ter)
n.220C>T
c.636+24120C>T (n.636+24120C>T)
ClinVar
dbSNP
Number of alleles fetched
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