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
20	g.4699875G>A	CA123094	PRNP	c.655G>A (p.Glu219Lys) c.344G>A (n.344G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.4699875G>T	CA408152834	PRNP	c.655G>T (p.Glu219Ter) c.344G>T (n.344G>T)	dbSNP

Number of alleles fetched