For example: Select type of search to load examples.
For a substitution with gene symbol, position, reference and alternate alleles known, please use this service:Gene and variation based query
Alternatively, please use this service to identify allele interactively if HGVS expression or transcript is not available.Interactively generate variation
This option provides a search box for entering multiple HGVS expressions (one per line). For alleles present in the allele registry, the search returns canonical allele identifiers. For valid alleles not present in the allele registry, the search results provide a button to register an allele.Bulk Query
Login is required to register new alleles and obtain their canonical identifiers.Create Login
If you already have an account and forgot either your login or password, please follow this link. You will need your email address to recover your login credentials.Forgot Login
Please contact us at firstname.lastname@example.org if you have any questions.