Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418508C>A	CA350682339	DES	c.46C>A (p.Arg16Ser)	ClinVar dbSNP
2	g.219418508C>T	CA217072	DES	c.46C>T (p.Arg16Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched