{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658662258",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1622,
          "referenceAllele": "P",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_055861.3:p.Pro1622Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297121",
          "hgvs": "NM_015046.7:c.4865C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174231"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441286[alleleid]",
        "alleleId": 441286,
        "preferredName": "NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448330",
        "RCV": [
          "RCV000764811",
          "RCV001579382",
          "RCV000518382",
          "RCV002341213",
          "RCV003233685",
          "RCV003233686"
        ],
        "variationId": 448330
      }
    ]
  },
  "type": "amino-acid"
}