{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827708514",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 70,
          "referenceAllele": "D",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004431",
      "geneNCBI_id": 9570,
      "geneSymbol": "GOSR2",
      "hgvs": [
        "NP_001340044.1:p.Asp70Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8621211",
          "hgvs": "NM_001353115.2:c.210C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA8621212",
          "hgvs": "NM_001353115.2:c.210C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622924"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=580249[alleleid]",
        "alleleId": 580249,
        "preferredName": "NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/588743",
        "RCV": [
          "RCV001523407",
          "RCV001692275",
          "RCV002313680"
        ],
        "variationId": 588743
      }
    ]
  },
  "type": "amino-acid"
}