{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110678",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 105,
          "referenceAllele": "I",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NP_000445.1:p.Ile105Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124298",
          "hgvs": "NM_000454.5:c.313A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29806[alleleid]",
        "alleleId": 29806,
        "preferredName": "NM_000454.5(SOD1):c.313A>T (p.Ile105Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14767",
        "RCV": [
          "RCV000015890",
          "RCV001813991"
        ],
        "variationId": 14767
      }
    ]
  },
  "type": "amino-acid"
}