{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA338458",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "referenceAllele": "R",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NP_036276.1:p.Arg650Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338457",
          "hgvs": "NM_012144.4:c.1948C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212669[alleleid]",
        "alleleId": 212669,
        "preferredName": "NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216677",
        "RCV": [
          "RCV000199193",
          "RCV000665810",
          "RCV001327957",
          "RCV001283733"
        ],
        "variationId": 216677
      }
    ]
  },
  "type": "amino-acid"
}