{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA149315",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1413,
          "referenceAllele": "D",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Asp1413His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA149314",
          "hgvs": "NM_025114.4:c.4237G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102066[alleleid]",
        "alleleId": 102066,
        "preferredName": "NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96172",
        "RCV": [
          "RCV000082249",
          "RCV000307654",
          "RCV000351974",
          "RCV000402012",
          "RCV000366483",
          "RCV000408211",
          "RCV000442189",
          "RCV001082252",
          "RCV001273070",
          "RCV004528298"
        ],
        "variationId": 96172
      }
    ]
  },
  "type": "amino-acid"
}