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.128483868G>A	CA128584	GATA2	c.1009C>T (p.Arg337Ter) c.1291C>T (p.Arg431Ter)	ClinVar dbSNP COSMIC
3	g.128483868G>C	CA354404247	GATA2	c.1009C>G (p.Arg337Gly) c.1291C>G (p.Arg431Gly)	ClinVar dbSNP gnomAD v4

Number of alleles fetched