{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826704519",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 271,
          "referenceAllele": "E",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NP_001273033.1:p.Glu271Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116344",
          "hgvs": "NM_001286104.2:c.811G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163206"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18595[alleleid]",
        "alleleId": 18595,
        "preferredName": "NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3556",
        "RCV": [
          "RCV000003735",
          "RCV000055839",
          "RCV000811923",
          "RCV001074385",
          "RCV001270479",
          "RCV002512720"
        ],
        "variationId": 3556
      }
    ]
  },
  "type": "amino-acid"
}