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
11	g.47342913del	CA010213	MYBPC3	c.1377del (p.Leu460TrpfsTer6) c.1359del (p.Leu454TrpfsTer6)	ClinVar dbSNP gnomAD v4
11	g.47342912_47342913del	CA677000613	MYBPC3	c.1376_1377del (p.Pro459LeufsTer15) c.1358_1359del (p.Pro453LeufsTer15)	dbSNP

Number of alleles fetched