{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658698970",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 2473,
          "referenceAllele": "L",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_055861.3:p.Leu2473Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5296396",
          "hgvs": "NM_015046.7:c.7417C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174231"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=486462[alleleid]",
        "alleleId": 486462,
        "preferredName": "NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/493499",
        "RCV": [
          "RCV000585562",
          "RCV001860112",
          "RCV003233754",
          "RCV003233755",
          "RCV004530633"
        ],
        "variationId": 493499
      }
    ]
  },
  "type": "amino-acid"
}