{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645414247",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 520,
          "referenceAllele": "F",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Phe520Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6712524",
          "hgvs": "NM_025114.4:c.1558T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA385979414",
          "hgvs": "NM_025114.4:c.1560T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA385979416",
          "hgvs": "NM_025114.4:c.1560T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=254761[alleleid]",
        "alleleId": 254761,
        "preferredName": "NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/261827",
        "RCV": [
          "RCV000254461",
          "RCV001113718",
          "RCV001113719",
          "RCV001109701",
          "RCV001109703",
          "RCV001086907",
          "RCV001109702",
          "RCV001572697"
        ],
        "variationId": 261827
      }
    ]
  },
  "type": "amino-acid"
}