{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826706085",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 184,
          "referenceAllele": "K",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NP_001273038.1:p.Lys184Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA395344702",
          "hgvs": "NM_001286109.2:c.550A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163211"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2158216[alleleid]",
        "alleleId": 2158216,
        "preferredName": "NM_001042432.2(CLN3):c.784A>G (p.Lys262Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2100319",
        "RCV": [
          "RCV003033464"
        ],
        "variationId": 2100319
      }
    ]
  },
  "type": "amino-acid"
}