{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580312118",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 477,
          "referenceAllele": "E",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003060",
      "geneNCBI_id": 1840,
      "geneSymbol": "DTX1",
      "hgvs": [
        "NP_004407.2:p.Glu477Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6802043",
          "hgvs": "NM_004416.3:c.1429G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170119"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2219217[alleleid]",
        "alleleId": 2219217,
        "preferredName": "NM_004416.3(DTX1):c.1429G>A (p.Glu477Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2228475",
        "RCV": [
          "RCV004093479"
        ],
        "variationId": 2228475
      }
    ]
  },
  "type": "amino-acid"
}