{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645469040",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "referenceAllele": "P",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NP_000294.1:p.Pro113Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7894004",
          "hgvs": "NM_000303.3:c.337C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409752[alleleid]",
        "alleleId": 409752,
        "preferredName": "NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420784",
        "RCV": [
          "RCV000482436",
          "RCV000984293"
        ],
        "variationId": 420784
      }
    ]
  },
  "type": "amino-acid"
}