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Query and registration functions accessible via the Registry web interface. (a) Example of HGVS‐based search from the Registry landing page (left) and a typical page presented to user when the variant is not registered. For logged‐in users, one click on “Get Identifier” provides canonical allele identifier. (b) Search interface for fuzzy queries where the exact transcript for which the variation is defined is not known (left). Results of example queries are shown on the right
