{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573094945",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 71,
          "referenceAllele": "E",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NP_067628.1:p.Glu71Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA283854974",
          "hgvs": "NM_021615.5:c.211G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177504"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1316149[alleleid]",
        "alleleId": 1316149,
        "preferredName": "NM_021615.5(CHST6):c.211G>C (p.Glu71Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1325889",
        "RCV": [
          "RCV001785426"
        ],
        "variationId": 1325889
      }
    ]
  },
  "type": "amino-acid"
}