{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139728427",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1948,
          "referenceAllele": "M",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_055861.3:p.Met1948Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5296887",
          "hgvs": "NM_015046.7:c.5842A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174231"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=904521[alleleid]",
        "alleleId": 904521,
        "preferredName": "NM_015046.7(SETX):c.5842A>G (p.Met1948Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/916295",
        "RCV": [
          "RCV001171884",
          "RCV002355133",
          "RCV002559645"
        ],
        "variationId": 916295
      }
    ]
  },
  "type": "amino-acid"
}