Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.6019564G>A	CA114164	VWF	c.3854C>T (p.Ser1285Phe) n.421-25630C>T n.652C>T	ClinVar dbSNP
12	g.6019564G>C	CA383506757	VWF	c.3854C>G (p.Ser1285Cys) n.421-25630C>G n.652C>G	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched