{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916028102",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 408,
          "referenceAllele": "A",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NP_001317309.1:p.Ala408Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117911",
          "hgvs": "NM_001330380.2:c.1223C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636195"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21054[alleleid]",
        "alleleId": 21054,
        "preferredName": "NM_012062.5(DNM1L):c.1184C>A (p.Ala395Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6015",
        "RCV": [
          "RCV000006386"
        ],
        "variationId": 6015
      }
    ]
  },
  "type": "amino-acid"
}