{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826595242",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NP_001268667.1:p.Gly549Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358566944",
          "hgvs": "NM_001281738.1:c.1645G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA358566945",
          "hgvs": "NM_001281738.1:c.1645G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162167"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1517135[alleleid]",
        "alleleId": 1517135,
        "preferredName": "NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1519846",
        "RCV": [
          "RCV002038411"
        ],
        "variationId": 1519846
      }
    ]
  },
  "type": "amino-acid"
}