{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645414357",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1355,
          "referenceAllele": "R",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Arg1355His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10638682",
          "hgvs": "NM_025114.4:c.4064G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=326833[alleleid]",
        "alleleId": 326833,
        "preferredName": "NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/310604",
        "RCV": [
          "RCV000303931",
          "RCV000339034",
          "RCV000361178",
          "RCV000398556",
          "RCV000391345",
          "RCV001242966",
          "RCV001590929",
          "RCV001835779",
          "RCV002487370",
          "RCV004544542"
        ],
        "variationId": 310604
      }
    ]
  },
  "type": "amino-acid"
}