{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826705452",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NP_001273034.1:p.Gly319Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA313757",
          "hgvs": "NM_001286105.2:c.956G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163207"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203258[alleleid]",
        "alleleId": 203258,
        "preferredName": "NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205102",
        "RCV": [
          "RCV000673887",
          "RCV001211899",
          "RCV001270478"
        ],
        "variationId": 205102
      }
    ]
  },
  "type": "amino-acid"
}