{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827470252",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 235,
          "referenceAllele": "H",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NP_001336833.1:p.His235Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10163566",
          "hgvs": "NM_001349904.2:c.704A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625073"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=729115[alleleid]",
        "alleleId": 729115,
        "preferredName": "NM_022081.6(HPS4):c.704A>G (p.His235Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/708993",
        "RCV": [
          "RCV000880339",
          "RCV001146783",
          "RCV003920509"
        ],
        "variationId": 708993
      }
    ]
  },
  "type": "amino-acid"
}