{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825803147",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "referenceAllele": "T",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NP_001136047.1:p.Thr147Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4471065",
          "hgvs": "NM_001142575.2:c.439A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153450"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=301844[alleleid]",
        "alleleId": 301844,
        "preferredName": "NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/358878",
        "RCV": [
          "RCV000287544",
          "RCV000347099",
          "RCV000521919",
          "RCV003168555",
          "RCV004544684"
        ],
        "variationId": 358878
      }
    ]
  },
  "type": "amino-acid"
}