{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826442332",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 660,
          "referenceAllele": "E",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NP_001244290.1:p.Glu660Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA156214",
          "hgvs": "NM_001257361.2:c.1980G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA341562802",
          "hgvs": "NM_001257361.2:c.1980G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136559[alleleid]",
        "alleleId": 136559,
        "preferredName": "NM_001368809.2(AMPD2):c.2172G>C (p.Glu724Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/132810",
        "RCV": [
          "RCV000119279"
        ],
        "variationId": 132810
      }
    ]
  },
  "type": "amino-acid"
}