Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
18	g.31082378G>A	CA16616735	DSC2	c.694C>T (p.Arg232Ter) c.1123C>T (p.Arg375Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18	g.31082378G>C	CA022415	DSC2	c.694C>G (p.Arg232Gly) c.1123C>G (p.Arg375Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched