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