{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573069723",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 131,
          "referenceAllele": "A",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002063",
      "geneNCBI_id": 1193,
      "geneSymbol": "CLIC2",
      "hgvs": [
        "NP_001280.3:p.Ala131Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA337225109",
          "hgvs": "NM_001289.5:c.392C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164936"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1325329[alleleid]",
        "alleleId": 1325329,
        "preferredName": "NM_001289.6(CLIC2):c.392C>A (p.Ala131Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1334434",
        "RCV": [
          "RCV001814619"
        ],
        "variationId": 1334434
      }
    ]
  },
  "type": "amino-acid"
}