Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48513591G>TCA490028029FBN1c.1546C>A (p.Arg516=)
n.220C>A
c.636+24120C>A (n.636+24120C>A)
dbSNP
15g.48513591G>ACA012230FBN1c.1546C>T (p.Arg516Ter)
n.220C>T
c.636+24120C>T (n.636+24120C>T)
ClinVar dbSNP

Number of alleles fetched