{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828597787",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1296,
          "referenceAllele": "E",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007208",
      "geneNCBI_id": 8777,
      "geneSymbol": "MPDZ",
      "hgvs": [
        "NP_001362348.1:p.Glu1296Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA372949491",
          "hgvs": "NM_001375419.1:c.3886G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710578"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2415791[alleleid]",
        "alleleId": 2415791,
        "preferredName": "NM_001378778.1(MPDZ):c.3985G>A (p.Glu1329Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2442078",
        "RCV": [
          "RCV003148401"
        ],
        "variationId": 2442078
      }
    ]
  },
  "type": "amino-acid"
}