{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741990167",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 2465,
          "referenceAllele": "",
          "start": 2465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Glu2465dup"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2740092429",
          "hgvs": "NM_025114.4:c.7393_7395dup"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3095000[alleleid]",
        "alleleId": 3095000,
        "preferredName": "NM_025114.4(CEP290):c.7393_7395dup (p.Glu2465_Phe2466insGlu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2934612",
        "RCV": [
          "RCV003798314"
        ],
        "variationId": 2934612
      }
    ]
  },
  "type": "amino-acid"
}