{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA129835",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 377,
          "referenceAllele": "L",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NP_004444.2:p.Leu377Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129834",
          "hgvs": "NM_004453.4:c.1130T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170156"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40285[alleleid]",
        "alleleId": 40285,
        "preferredName": "NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31601",
        "RCV": [
          "RCV000024305",
          "RCV000210651",
          "RCV000578325",
          "RCV001814011",
          "RCV001831605"
        ],
        "variationId": 31601
      }
    ]
  },
  "type": "amino-acid"
}