Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
X	g.38369811C>G	CA412716828	OTC	c.232C>G (p.Gln78Glu) c.172-296310C>G (n.172-296310C>G) n.324C>G	dbSNP
X	g.38369811C>T	CA224509	OTC	c.232C>T (p.Gln78Ter) c.172-296310C>T (n.172-296310C>T) n.324C>T	ClinVar dbSNP gnomAD v4

Number of alleles fetched