Allele Registry

SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.7583581G>C	CA006855	DSP	c.4990G>C (p.Val1664Leu) c.6319G>C (p.Val2107Leu) c.4522G>C (p.Val1508Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7583581G=	CA1608608572	DSP	c.4990G= (p.Val1664=) c.6319G= (p.Val2107=) c.4522G= (p.Val1508=)	dbSNP

Number of alleles fetched