{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827255816",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 206,
          "referenceAllele": "H",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NP_001311394.1:p.His206Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358006",
          "hgvs": "NM_001324465.2:c.617A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS652067"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226967[alleleid]",
        "alleleId": 226967,
        "preferredName": "NM_018255.4(ELP2):c.617A>G (p.His206Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225008",
        "RCV": [
          "RCV000210560",
          "RCV000415587",
          "RCV000509137",
          "RCV000498075"
        ],
        "variationId": 225008
      }
    ]
  },
  "type": "amino-acid"
}