{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827616651",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1322,
          "referenceAllele": "T",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338456.1:p.Thr1322Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297296",
          "hgvs": "NM_001351527.2:c.3965C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618000"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577107[alleleid]",
        "alleleId": 577107,
        "preferredName": "NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/586545",
        "RCV": [
          "RCV000713211",
          "RCV001210286",
          "RCV002369984",
          "RCV001849075",
          "RCV004544961"
        ],
        "variationId": 586545
      }
    ]
  },
  "type": "amino-acid"
}