{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573061367",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "V",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NP_000117.1:p.Val165Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7673746",
          "hgvs": "NM_000126.4:c.494T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146676"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1291593[alleleid]",
        "alleleId": 1291593,
        "preferredName": "NM_000126.4(ETFA):c.494T>C (p.Val165Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1301310",
        "RCV": [
          "RCV001733357"
        ],
        "variationId": 1301310
      }
    ]
  },
  "type": "amino-acid"
}