{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830440992",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 374,
          "referenceAllele": "I",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NP_955468.1:p.Ile374Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253568",
          "hgvs": "NM_199436.2:c.1120A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185463"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20714[alleleid]",
        "alleleId": 20714,
        "preferredName": "NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5675",
        "RCV": [
          "RCV000006029",
          "RCV000497406",
          "RCV001847589"
        ],
        "variationId": 5675
      }
    ]
  },
  "type": "amino-acid"
}