{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825948522",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 2140,
          "referenceAllele": "D",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NP_001153699.1:p.Asp2140Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7534007",
          "hgvs": "NM_001160227.2:c.6420C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392213948",
          "hgvs": "NM_001160227.2:c.6420C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154624"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237049[alleleid]",
        "alleleId": 237049,
        "preferredName": "NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235362",
        "RCV": [
          "RCV000224214",
          "RCV001085256",
          "RCV001260212",
          "RCV001847948",
          "RCV002365166",
          "RCV003919902"
        ],
        "variationId": 235362
      }
    ]
  },
  "type": "amino-acid"
}