{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580140128",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023279",
      "geneNCBI_id": 391475,
      "geneSymbol": "DYTN",
      "hgvs": [
        "NP_001087199.1:p.Gly119Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350055570",
          "hgvs": "NM_001093730.1:c.356G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150986"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2255274[alleleid]",
        "alleleId": 2255274,
        "preferredName": "NM_001093730.1(DYTN):c.356G>A (p.Gly119Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2261113",
        "RCV": [
          "RCV004117660"
        ],
        "variationId": 2261113
      }
    ]
  },
  "type": "amino-acid"
}