{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825125924",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 203,
          "referenceAllele": "Q",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NP_000323.2:p.Gln203His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3645584",
          "hgvs": "NM_000332.4:c.609G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA362812255",
          "hgvs": "NM_000332.4:c.609G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146877"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=919020[alleleid]",
        "alleleId": 919020,
        "preferredName": "NM_001128164.2(ATXN1):c.609G>T (p.Gln203His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/931497",
        "RCV": [
          "RCV001198089",
          "RCV002559262",
          "RCV003908443"
        ],
        "variationId": 931497
      }
    ]
  },
  "type": "amino-acid"
}