{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827464808",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "ACPDGRKE",
          "end": 324,
          "referenceAllele": "",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NP_001336827.1:p.Ala317_Glu324dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624563"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19168[alleleid]",
        "alleleId": 19168,
        "preferredName": "NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4129",
        "RCV": [
          "RCV000004345",
          "RCV001851643",
          "RCV003488323"
        ],
        "variationId": 4129
      }
    ]
  },
  "type": "amino-acid"
}