{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109733",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "E",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NP_000294.1:p.Glu197Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA146027",
          "hgvs": "NM_000303.3:c.590A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98710[alleleid]",
        "alleleId": 98710,
        "preferredName": "NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92803",
        "RCV": [
          "RCV000078593",
          "RCV000607305",
          "RCV002055093"
        ],
        "variationId": 92803
      }
    ]
  },
  "type": "amino-acid"
}