{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA312478",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 178,
          "referenceAllele": "T",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NP_000117.1:p.Thr178Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA312477",
          "hgvs": "NM_000126.4:c.533C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146676"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200295[alleleid]",
        "alleleId": 200295,
        "preferredName": "NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203687",
        "RCV": [
          "RCV000320514",
          "RCV000726964",
          "RCV003917703"
        ],
        "variationId": 203687
      }
    ]
  },
  "type": "amino-acid"
}