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
14	g.23415021G>A	CA016203	MYH7	c.5533C>T (p.Arg1845Trp)	ClinVar dbSNP gnomAD v4 COSMIC
14	g.23415021G>T	CA047143	MYH7	c.5533C>A (p.Arg1845=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched