Fig. 4

An excerpt of the new HGVS Syntax Summary pages [26]. The HGVS Syntax Summary shows all syntax rules in HGVS, organized primarily by variant type and secondarily by molecule type. This organization complements that of the website and facilitates readers to compare syntax rules. The syntax rules in the summary and molecule-specific page (Fig. 3b) are drawn from the same file, thereby guaranteeing consistency between these two views