Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
15	g.48537704G>A	CA016459	FBN1	c.643C>T (p.Arg215Ter) c.636+7C>T (n.636+7C>T)	ClinVar dbSNP
15	g.48537704G>C	CA056783	FBN1	c.643C>G (p.Arg215Gly) c.636+7C>G (n.636+7C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched