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
3	g.128486004dup	CA358452	GATA2	c.599dup (p.Ser201Ter) c.881dup (p.Ser295Ter)	ClinVar dbSNP ExAC
3	g.128486004del	CA435764121	GATA2	c.599del (p.Gly200ValfsTer18) c.881del (p.Gly294ValfsTer18)	ClinVar dbSNP gnomAD v2 COSMIC

Number of alleles fetched