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
17	g.4738774A>G	CA8309294	CXCL16	c.218+8T>C (n.218+8T>C) c.275+8T>C (n.275+8T>C) c.56+8T>C (n.56+8T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.4738774A>T	CA2244538520	CXCL16	c.218+8T>A (n.218+8T>A) c.275+8T>A (n.275+8T>A) c.56+8T>A (n.56+8T>A)	dbSNP

Number of alleles fetched