{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139756597",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 359,
          "referenceAllele": "R",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NP_954712.1:p.Arg359His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8773127",
          "hgvs": "NM_199242.3:c.1076G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185394"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=846219[alleleid]",
        "alleleId": 846219,
        "preferredName": "NM_199242.3(UNC13D):c.1076G>A (p.Arg359His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/847734",
        "RCV": [
          "RCV001051337",
          "RCV002553737"
        ],
        "variationId": 847734
      }
    ]
  },
  "type": "amino-acid"
}