{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825645831",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 20,
          "referenceAllele": "R",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "NP_001121082.1:p.Arg20Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5160791",
          "hgvs": "NM_001127610.2:c.59G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152124"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=253251[alleleid]",
        "alleleId": 253251,
        "preferredName": "NM_001701.4(BAAT):c.59G>A (p.Arg20Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/257518",
        "RCV": [
          "RCV000246129",
          "RCV000379275",
          "RCV001553898",
          "RCV001711676"
        ],
        "variationId": 257518
      }
    ]
  },
  "type": "amino-acid"
}