{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827616198",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 464,
          "referenceAllele": "S",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338456.1:p.Ser464Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297785",
          "hgvs": "NM_001351527.2:c.1391C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2740092910",
          "hgvs": "NM_001351527.2:c.1391_1392delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618000"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=316919[alleleid]",
        "alleleId": 316919,
        "preferredName": "NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3101916[alleleid]",
        "alleleId": 3101916,
        "preferredName": "NM_015046.7(SETX):c.1391_1392inv (p.Ser464Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/365372",
        "RCV": [
          "RCV000262880",
          "RCV000320659",
          "RCV000687686",
          "RCV002392927",
          "RCV002472998",
          "RCV004544713"
        ],
        "variationId": 365372
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2947330",
        "RCV": [
          "RCV003801520"
        ],
        "variationId": 2947330
      }
    ]
  },
  "type": "amino-acid"
}