{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107858",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 240,
          "referenceAllele": "W",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "NP_000425.1:p.Trp240Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA212563",
          "hgvs": "NM_000434.4:c.718T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA363492244",
          "hgvs": "NM_000434.4:c.718T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146977"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17492[alleleid]",
        "alleleId": 17492,
        "preferredName": "NM_000434.4(NEU1):c.718T>C (p.Trp240Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2453",
        "RCV": [
          "RCV000002557"
        ],
        "variationId": 2453
      }
    ]
  },
  "type": "amino-acid"
}