{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645408177",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NP_079413.3:p.Cys1107Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7534998",
          "hgvs": "NM_025137.4:c.3320G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392225061",
          "hgvs": "NM_025137.4:c.3319T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=400270[alleleid]",
        "alleleId": 400270,
        "preferredName": "NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/406528",
        "RCV": [
          "RCV000472310",
          "RCV002323697",
          "RCV003155188",
          "RCV002496754"
        ],
        "variationId": 406528
      }
    ]
  },
  "type": "amino-acid"
}