Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48520779C>TCA011866FBN1c.1027G>A (p.Gly343Arg)
c.636+16932G>A (n.636+16932G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48520779C=CA2175537740FBN1c.1027G= (p.Gly343=)
c.636+16932G= (n.636+16932G=)
dbSNP

Number of alleles fetched