Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
10	g.102066289C>T	CA259883	HPS6	c.815C>T (p.Thr272Ile)	ClinVar dbSNP gnomAD v4
10	g.102066289C>A	CA377859195	HPS6	c.815C>A (p.Thr272Asn)	dbSNP gnomAD v4
10	g.102066289C=	CA1932502788	HPS6	c.815C= (p.Thr272=)	dbSNP

Number of alleles fetched