{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139728217",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1691,
          "referenceAllele": "L",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_055861.3:p.Leu1691Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297076",
          "hgvs": "NM_015046.7:c.5071C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174231"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=835619[alleleid]",
        "alleleId": 835619,
        "preferredName": "NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/860711",
        "RCV": [
          "RCV001067074",
          "RCV001288406",
          "RCV004536130"
        ],
        "variationId": 860711
      }
    ]
  },
  "type": "amino-acid"
}