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.5234026A>T	CA379276784	HBD	c.280T>A (p.Cys94Ser) c.92+316T>A (n.92+316T>A)	dbSNP
11	g.5234026A>C	CA124693	HBD	c.280T>G (p.Cys94Gly) c.92+316T>G (n.92+316T>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched