Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
X	g.153743023C>A	CA415115913	ABCD1	c.1817C>A (p.Ser606Ter) n.2289C>A	ClinVar dbSNP gnomAD v4
X	g.153743023C>T	CA121420	ABCD1	c.1817C>T (p.Ser606Leu) n.2289C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched