{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891855533",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 827,
          "referenceAllele": "L",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Leu827Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6712327",
          "hgvs": "NM_025114.4:c.2479C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=572093[alleleid]",
        "alleleId": 572093,
        "preferredName": "NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/569343",
        "RCV": [
          "RCV000689950",
          "RCV001115041",
          "RCV001115043",
          "RCV001115045",
          "RCV002477547",
          "RCV001829910",
          "RCV001115042",
          "RCV001115044",
          "RCV001756171",
          "RCV004026344",
          "RCV004527741"
        ],
        "variationId": 569343
      }
    ]
  },
  "type": "amino-acid"
}