Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.35575903G>A	CA119067	PEX12	c.959C>T (p.Ser320Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35575903G>C	CA399137019	PEX12	c.959C>G (p.Ser320Cys)	dbSNP
17	g.35575903G=	CA2257586401	PEX12	c.959C= (p.Ser320=)	dbSNP

Number of alleles fetched