{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253517",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 3101,
          "referenceAllele": "W",
          "start": 3100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_001264984.1:p.Trp3101Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253516",
          "hgvs": "NM_001278055.2:c.9301T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387513757",
          "hgvs": "NM_001278055.2:c.9301T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20558[alleleid]",
        "alleleId": 20558,
        "preferredName": "NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5519",
        "RCV": [
          "RCV000005854"
        ],
        "variationId": 5519
      }
    ]
  },
  "type": "amino-acid"
}