{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499267859",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 262,
          "referenceAllele": "L",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NP_004444.2:p.Leu262Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358560897",
          "hgvs": "NM_004453.4:c.786G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA358560898",
          "hgvs": "NM_004453.4:c.786G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170156"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016398[alleleid]",
        "alleleId": 1016398,
        "preferredName": "NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028249",
        "RCV": [
          "RCV001329259"
        ],
        "variationId": 1028249
      }
    ]
  },
  "type": "amino-acid"
}