{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139754625",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 13,
          "referenceAllele": "R",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NP_945345.2:p.Arg13Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9731522",
          "hgvs": "NM_198994.3:c.38G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185316"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=885895[alleleid]",
        "alleleId": 885895,
        "preferredName": "NM_198994.3(TGM6):c.38G>A (p.Arg13Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/895318",
        "RCV": [
          "RCV001137366",
          "RCV001432313",
          "RCV003928732"
        ],
        "variationId": 895318
      }
    ]
  },
  "type": "amino-acid"
}