{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826070279",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 283,
          "referenceAllele": "K",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000468",
      "geneNCBI_id": 270,
      "geneSymbol": "AMPD1",
      "hgvs": [
        "NP_001166097.2:p.Lys283Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145623",
          "hgvs": "NM_001172626.2:c.848A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98249[alleleid]",
        "alleleId": 98249,
        "preferredName": "NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92338",
        "RCV": [
          "RCV000676655",
          "RCV000763229",
          "RCV002247475",
          "RCV002464104",
          "RCV003974954"
        ],
        "variationId": 92338
      }
    ]
  },
  "type": "amino-acid"
}