{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826599697",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 162,
          "referenceAllele": "G",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NP_001265393.1:p.Gly162Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384367012",
          "hgvs": "NM_001278464.2:c.484G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA384367014",
          "hgvs": "NM_001278464.2:c.484G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161769"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2476531[alleleid]",
        "alleleId": 2476531,
        "preferredName": "NM_012062.5(DNM1L):c.445G>A (p.Gly149Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2498554",
        "RCV": [
          "RCV003222763"
        ],
        "variationId": 2498554
      }
    ]
  },
  "type": "amino-acid"
}