{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825947678",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "S",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NP_001153699.1:p.Ser1142Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7534986",
          "hgvs": "NM_001160227.2:c.3425C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154624"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=400608[alleleid]",
        "alleleId": 400608,
        "preferredName": "NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/406532",
        "RCV": [
          "RCV000462305",
          "RCV000765212",
          "RCV001260216",
          "RCV001508758",
          "RCV001848803",
          "RCV002467815",
          "RCV002467814",
          "RCV003401464"
        ],
        "variationId": 406532
      }
    ]
  },
  "type": "amino-acid"
}