{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825658693",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 217,
          "referenceAllele": "T",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NP_001121188.1:p.Thr217Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115638",
          "hgvs": "NM_001127716.2:c.650C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152171"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17633[alleleid]",
        "alleleId": 17633,
        "preferredName": "NM_000126.4(ETFA):c.797C>T (p.Thr266Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2594",
        "RCV": [
          "RCV000002712",
          "RCV000185868",
          "RCV000332032",
          "RCV003904798"
        ],
        "variationId": 2594
      }
    ]
  },
  "type": "amino-acid"
}