{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573230042",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 248,
          "referenceAllele": "Q",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NP_003468.2:p.Gln248Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220466391",
          "hgvs": "NM_003477.3:c.742C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169260"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1483981[alleleid]",
        "alleleId": 1483981,
        "preferredName": "NM_003477.3(PDHX):c.742C>G (p.Gln248Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1405184",
        "RCV": [
          "RCV001903613"
        ],
        "variationId": 1405184
      }
    ]
  },
  "type": "amino-acid"
}