{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826593959",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 506,
          "referenceAllele": "Y",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NP_001268666.1:p.Tyr506His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3122680",
          "hgvs": "NM_001281737.2:c.1516T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162166"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1515290[alleleid]",
        "alleleId": 1515290,
        "preferredName": "NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1517130",
        "RCV": [
          "RCV002027116"
        ],
        "variationId": 1517130
      }
    ]
  },
  "type": "amino-acid"
}