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.89178660G>A	CA227583	TYR	c.707G>A (p.Trp236Ter) n.768G>A n.2718-65127C>T n.2733-65127C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.89178660G>C	CA227585	TYR	c.707G>C (p.Trp236Ser) n.768G>C n.2718-65127C>G n.2733-65127C>G	ClinVar dbSNP

Number of alleles fetched