{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645414360",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1384,
          "referenceAllele": "R",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Arg1384His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6712022",
          "hgvs": "NM_025114.4:c.4151G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=332982[alleleid]",
        "alleleId": 332982,
        "preferredName": "NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/310602",
        "RCV": [
          "RCV000268181",
          "RCV000303676",
          "RCV000316272",
          "RCV000354663",
          "RCV000360821",
          "RCV000603267",
          "RCV001273072",
          "RCV001347081"
        ],
        "variationId": 310602
      }
    ]
  },
  "type": "amino-acid"
}