{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826595246",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NP_001268667.1:p.Gly550Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3122732",
          "hgvs": "NM_001281738.1:c.1649G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162167"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259784[alleleid]",
        "alleleId": 259784,
        "preferredName": "NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265124",
        "RCV": [
          "RCV000255489",
          "RCV001069003",
          "RCV001833298"
        ],
        "variationId": 265124
      }
    ]
  },
  "type": "amino-acid"
}