{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825548429",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 300,
          "referenceAllele": "T",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NP_001096075.1:p.Thr300Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043423",
          "hgvs": "NM_001102605.2:c.898A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151484"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360887[alleleid]",
        "alleleId": 360887,
        "preferredName": "NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374177",
        "RCV": [
          "RCV000415244",
          "RCV001198950"
        ],
        "variationId": 374177
      }
    ]
  },
  "type": "amino-acid"
}