{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827617755",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 919,
          "referenceAllele": "V",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338457.1:p.Val919Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297536",
          "hgvs": "NM_001351528.2:c.2755G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375334027",
          "hgvs": "NM_001351528.2:c.2755G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=524399[alleleid]",
        "alleleId": 524399,
        "preferredName": "NM_015046.7(SETX):c.2755G>C (p.Val919Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/536395",
        "RCV": [
          "RCV000644837",
          "RCV000992932",
          "RCV001262697",
          "RCV001270092",
          "RCV002440309",
          "RCV003317317"
        ],
        "variationId": 536395
      }
    ]
  },
  "type": "amino-acid"
}