{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102026",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 510,
          "referenceAllele": "E",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004801",
      "geneNCBI_id": 3030,
      "geneSymbol": "HADHA",
      "hgvs": [
        "NP_000173.2:p.Glu510Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119870",
          "hgvs": "NM_000182.5:c.1528G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146732"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23767[alleleid]",
        "alleleId": 23767,
        "preferredName": "NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100085",
        "RCV": [
          "RCV000009267",
          "RCV000009266",
          "RCV000174836",
          "RCV000185933",
          "RCV000624767",
          "RCV000535911",
          "RCV000778608",
          "RCV001001910"
        ],
        "variationId": 100085
      }
    ]
  },
  "type": "amino-acid"
}