Links
- Human Genome Variation Society (HGVS)
- Human Genome Organisation (HUGO)
- Nomenclature recommendations to describe sequence variations
- The International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Do you want to submit your mutations to a new database and at the same time receive a Human Mutation online publication (Genome Variation Report; GVR) & possibly a PubMed ID? See the WayStation, a HGVS affiliated project to facilitate the collection of ALL mutations.