{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827618196",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1735,
          "referenceAllele": "V",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338457.1:p.Val1735Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297055",
          "hgvs": "NM_001351528.2:c.5203G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=425829[alleleid]",
        "alleleId": 425829,
        "preferredName": "NM_015046.7(SETX):c.5203G>A (p.Val1735Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/432889",
        "RCV": [
          "RCV000498384",
          "RCV001851384",
          "RCV002252142",
          "RCV003233653",
          "RCV003233654"
        ],
        "variationId": 432889
      }
    ]
  },
  "type": "amino-acid"
}