{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA207268",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 207,
          "referenceAllele": "Q",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NP_000323.2:p.Gln207His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA207267",
          "hgvs": "NM_000332.4:c.621G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA362812228",
          "hgvs": "NM_000332.4:c.621G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146877"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207396[alleleid]",
        "alleleId": 207396,
        "preferredName": "NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210502",
        "RCV": [
          "RCV000193645",
          "RCV001262838"
        ],
        "variationId": 210502
      }
    ]
  },
  "type": "amino-acid"
}