{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829619099",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 403,
          "referenceAllele": "R",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NP_005681.2:p.Arg403Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA324758",
          "hgvs": "NM_005690.5:c.1207C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171309"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211619[alleleid]",
        "alleleId": 211619,
        "preferredName": "NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214313",
        "RCV": [
          "RCV000200196",
          "RCV000239677",
          "RCV000622584",
          "RCV000850522"
        ],
        "variationId": 214313
      }
    ]
  },
  "type": "amino-acid"
}