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
1	g.54999208C>T	CA116806	BSND	c.22C>T (p.Arg8Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.54999208C>A	CA417956507	BSND	c.22C>A (p.Arg8=)	dbSNP

Number of alleles fetched