Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
15	g.48596337C>A	CA392446332	FBN1	c.484G>T (p.Ala162Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
15	g.48596337C>T	CA015441	FBN1	c.484G>A (p.Ala162Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched