{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645471883",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 514,
          "referenceAllele": "I",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NP_000471.1:p.Ile514Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5883050",
          "hgvs": "NM_000480.3:c.1540A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147015"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=324812[alleleid]",
        "alleleId": 324812,
        "preferredName": "NM_001025389.2(AMPD3):c.1513A>G (p.Ile505Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/302172",
        "RCV": [
          "RCV000283072",
          "RCV004021495"
        ],
        "variationId": 302172
      }
    ]
  },
  "type": "amino-acid"
}