Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64081870C>G	CA140278469	EYS	c.6557G>C (p.Gly2186Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64081870C>T	CA270059	EYS	c.6557G>A (p.Gly2186Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched