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.94098928G>T	CA341289643	ABCA4	c.634C>A (p.Arg212Ser)	dbSNP gnomAD v2 gnomAD v4
1	g.94098928G>A	CA203216	ABCA4	c.634C>T (p.Arg212Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched