{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645414231",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 364,
          "referenceAllele": "I",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Ile364Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6712623",
          "hgvs": "NM_025114.4:c.1092T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265487[alleleid]",
        "alleleId": 265487,
        "preferredName": "NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281250",
        "RCV": [
          "RCV000280320",
          "RCV000320212",
          "RCV000354111",
          "RCV000374721",
          "RCV000342452",
          "RCV000396707",
          "RCV000637003",
          "RCV000714822",
          "RCV001589313",
          "RCV001265795",
          "RCV001275039",
          "RCV001580478",
          "RCV002294212",
          "RCV003319345"
        ],
        "variationId": 281250
      }
    ]
  },
  "type": "amino-acid"
}