{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827467194",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 601,
          "referenceAllele": "E",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NP_001336829.1:p.Glu601Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10163227",
          "hgvs": "NM_001349900.2:c.1801G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=351247[alleleid]",
        "alleleId": 351247,
        "preferredName": "NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/341001",
        "RCV": [
          "RCV000346739",
          "RCV002057796",
          "RCV002520041"
        ],
        "variationId": 341001
      }
    ]
  },
  "type": "amino-acid"
}