{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826260950",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 283,
          "referenceAllele": "A",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NP_001189378.1:p.Ala283Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA249476",
          "hgvs": "NM_001202449.2:c.848C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157868"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38557[alleleid]",
        "alleleId": 38557,
        "preferredName": "NM_006721.4(ADK):c.953C>A (p.Ala318Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29603",
        "RCV": [
          "RCV000022443"
        ],
        "variationId": 29603
      }
    ]
  },
  "type": "amino-acid"
}