Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
9	g.134812612dup	CA591108398	COL5A1	c.3752dup (p.Pro1253SerfsTer14) n.4154dup n.4150dup	ClinVar dbSNP gnomAD v2 gnomAD v4
9	g.134812612del	CA281072	COL5A1	c.3752del (p.Pro1251ArgfsTer25) n.4154del n.4150del	ClinVar dbSNP gnomAD v4

Number of alleles fetched