{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA274796",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NP_077740.1:p.Gly790del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022684",
          "hgvs": "NM_024422.6:c.2368_2370del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178726[alleleid]",
        "alleleId": 178726,
        "preferredName": "NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180319",
        "RCV": [
          "RCV000157177",
          "RCV000215675",
          "RCV000253898",
          "RCV000472144",
          "RCV000626335",
          "RCV000771253",
          "RCV000852736",
          "RCV001723728"
        ],
        "variationId": 180319
      }
    ]
  },
  "type": "amino-acid"
}