{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA323780",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 230,
          "referenceAllele": "E",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "NP_149100.2:p.Glu230Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA323779",
          "hgvs": "NM_033109.5:c.688G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210883[alleleid]",
        "alleleId": 210883,
        "preferredName": "NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215008",
        "RCV": [
          "RCV000199246",
          "RCV000765691",
          "RCV001336837",
          "RCV004541264"
        ],
        "variationId": 215008
      }
    ]
  },
  "type": "amino-acid"
}