{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829550791",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 623,
          "referenceAllele": "P",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002974",
      "geneNCBI_id": 1785,
      "geneSymbol": "DNM2",
      "hgvs": [
        "NP_004936.2:p.Pro623Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172114",
          "hgvs": "NM_004945.4:c.1868C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170616"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169467[alleleid]",
        "alleleId": 169467,
        "preferredName": "NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158520",
        "RCV": [
          "RCV000145910",
          "RCV000235945",
          "RCV002286706",
          "RCV003447118"
        ],
        "variationId": 158520
      }
    ]
  },
  "type": "amino-acid"
}