{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916054585",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "A",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Ala697Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6712401",
          "hgvs": "NM_025114.4:c.2090C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=684357[alleleid]",
        "alleleId": 684357,
        "preferredName": "NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/695268",
        "RCV": [
          "RCV000860704",
          "RCV001111807",
          "RCV001111804",
          "RCV001111805",
          "RCV001111806",
          "RCV001112276",
          "RCV001275033",
          "RCV001546810",
          "RCV004538174"
        ],
        "variationId": 695268
      }
    ]
  },
  "type": "amino-acid"
}