{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645406588",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 599,
          "referenceAllele": "P",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022448",
      "geneNCBI_id": 135935,
      "geneSymbol": "NOBOX",
      "hgvs": [
        "NP_001073882.3:p.Pro599His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4544504",
          "hgvs": "NM_001080413.3:c.1796C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150647"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=302073[alleleid]",
        "alleleId": 302073,
        "preferredName": "NM_001080413.3(NOBOX):c.1796C>A (p.Pro599His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/359135",
        "RCV": [
          "RCV000373245",
          "RCV001712543"
        ],
        "variationId": 359135
      }
    ]
  },
  "type": "amino-acid"
}