{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827617285",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 2625,
          "referenceAllele": "P",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338456.1:p.Pro2625Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5296299",
          "hgvs": "NM_001351527.2:c.7874C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618000"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=311314[alleleid]",
        "alleleId": 311314,
        "preferredName": "NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/365337",
        "RCV": [
          "RCV000299852",
          "RCV000359404",
          "RCV001662350",
          "RCV003372694",
          "RCV003766099"
        ],
        "variationId": 365337
      }
    ]
  },
  "type": "amino-acid"
}