Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.24955888C>A	CA259657	NEFL	c.628G>T (p.Glu210Ter) n.834G>T c.592+36G>T (n.592+36G>T)	ClinVar dbSNP gnomAD v4
8	g.24955888C>G	CA370621989	NEFL	c.628G>C (p.Glu210Gln) n.834G>C c.592+36G>C (n.592+36G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched