{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830441386",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NP_955468.1:p.Gly527Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA349419",
          "hgvs": "NM_199436.2:c.1580G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185463"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221180[alleleid]",
        "alleleId": 221180,
        "preferredName": "NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219608",
        "RCV": [
          "RCV000205236",
          "RCV000432874",
          "RCV001847924"
        ],
        "variationId": 219608
      }
    ]
  },
  "type": "amino-acid"
}