{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891858292",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 269,
          "referenceAllele": "Q",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NP_004444.2:p.Gln269His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358560944",
          "hgvs": "NM_004453.4:c.807A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA358560945",
          "hgvs": "NM_004453.4:c.807A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170156"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=563564[alleleid]",
        "alleleId": 563564,
        "preferredName": "NM_004453.4(ETFDH):c.807A>C (p.Gln269His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/565800",
        "RCV": [
          "RCV000685445",
          "RCV001829892"
        ],
        "variationId": 565800
      }
    ]
  },
  "type": "amino-acid"
}