{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA252040",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "referenceAllele": "F",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NP_954712.1:p.Phe857Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252038",
          "hgvs": "NM_199242.3:c.2570T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185394"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17042[alleleid]",
        "alleleId": 17042,
        "preferredName": "NM_199242.3(UNC13D):c.2570T>G (p.Phe857Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2003",
        "RCV": [
          "RCV000002080"
        ],
        "variationId": 2003
      }
    ]
  },
  "type": "amino-acid"
}