{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830053605",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1628,
          "referenceAllele": "Q",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Gln1628Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA385992936",
          "hgvs": "NM_025114.4:c.4882C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2125966[alleleid]",
        "alleleId": 2125966,
        "preferredName": "NM_025114.4(CEP290):c.4882C>A (p.Gln1628Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2068443",
        "RCV": [
          "RCV002974831"
        ],
        "variationId": 2068443
      }
    ]
  },
  "type": "amino-acid"
}