Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
9	g.134767025del	CA916083083	COL5A1	c.2159del (p.Pro720GlnfsTer?) n.2561del n.2557del	ClinVar dbSNP gnomAD v4
9	g.134767025dup	CA322364	COL5A1	c.2159dup (p.Gly721ArgfsTer5) n.2561dup n.2557dup	ClinVar dbSNP gnomAD v4

Number of alleles fetched