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
12	g.65781114G>T	CA605673146	RPSAP52	n.133-22083C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65781114G>C	CA13591945	RPSAP52	n.133-22083C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched