Resources:

  1. ClinVar. Retrieved from https://www.ncbi.nlm.nih.gov/clinvar/
  2. ClinGen. Retrieved from https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/landing/
  3. dbSNP. Retrieved from http://www.ncbi.nlm.nih.gov/snp/
  4. Ensembl. Retrieved from http://rest.ensembl.org
  5. Genome Reference Consortium Human Build 38 (GRCh38). Retrieved from https://www.ncbi.nlm.nih.gov/datasets/genome/GCF_000001405.26/
  6. Human Genome Variation Society. Retrieved from https://www.hgvs.org
  7. OMIM. Retrieved from http://www.ncbi.nlm.nih.gov/omim/
  8. UniProtKB. Retrieved from http://www.uniprot.org/uniprot/