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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48468097G>A
CA015232
FBN1
c.4588C>T (p.Arg1530Cys)
n.3262C>T
c.*351C>T (n.*351C>T)
ClinVar
dbSNP
gnomAD v4
COSMIC
15
g.48468097G>T
CA392353179
FBN1
c.4588C>A (p.Arg1530Ser)
n.3262C>A
c.*351C>A (n.*351C>A)
ClinVar
dbSNP
Number of alleles fetched
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