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.47342680G>A	CA010566	MYBPC3	c.1522C>T (p.Gln508Ter) c.1504C>T (p.Gln502Ter)	ClinVar dbSNP
11	g.47342680G>C	CA380325186	MYBPC3	c.1522C>G (p.Gln508Glu) c.1504C>G (p.Gln502Glu)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched