{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139757547",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1554,
          "referenceAllele": "E",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Glu1554del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6711895",
          "hgvs": "NM_025114.4:c.4661_4663del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=948190[alleleid]",
        "alleleId": 948190,
        "preferredName": "NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/953502",
        "RCV": [
          "RCV001225803",
          "RCV001587254",
          "RCV001833951",
          "RCV001543579",
          "RCV003462770"
        ],
        "variationId": 953502
      }
    ]
  },
  "type": "amino-acid"
}