{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828733282",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 324,
          "referenceAllele": "E",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NP_001364888.1:p.Glu324Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043827",
          "hgvs": "NM_001377959.1:c.970G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737863"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361527[alleleid]",
        "alleleId": 361527,
        "preferredName": "NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374641",
        "RCV": [
          "RCV000416011",
          "RCV001391499",
          "RCV004022186"
        ],
        "variationId": 374641
      }
    ]
  },
  "type": "amino-acid"
}