Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
21	g.46132287C>G	CA410549750	COL6A2	c.2795C>G (p.Pro932Arg) n.2872C>G n.2879C>G	dbSNP gnomAD v4
21	g.46132287C>T	CA242938	COL6A2	c.2795C>T (p.Pro932Leu) n.2872C>T n.2879C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched