Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.86644671C>A	CA274198	CNGB3	c.1006G>T (p.Glu336Ter) n.826G>T c.592G>T (p.Glu198Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.86644671C>T	CA371447755	CNGB3	c.1006G>A (p.Glu336Lys) n.826G>A c.592G>A (p.Glu198Lys)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched