{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825341317",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 162,
          "referenceAllele": "R",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NP_001020560.1:p.Arg162Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10629755",
          "hgvs": "NM_001025389.2:c.485G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149361"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=312193[alleleid]",
        "alleleId": 312193,
        "preferredName": "NM_001025389.2(AMPD3):c.485G>A (p.Arg162Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/302156",
        "RCV": [
          "RCV000285685"
        ],
        "variationId": 302156
      }
    ]
  },
  "type": "amino-acid"
}