{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104289",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 263,
          "referenceAllele": "W",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NP_061764.2:p.Trp263Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252416",
          "hgvs": "NM_018941.4:c.789G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA369954328",
          "hgvs": "NM_018941.4:c.789G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176482"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17842[alleleid]",
        "alleleId": 17842,
        "preferredName": "NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2803",
        "RCV": [
          "RCV000002937",
          "RCV001090293",
          "RCV001851598"
        ],
        "variationId": 2803
      }
    ]
  },
  "type": "amino-acid"
}