{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829718793",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 192,
          "referenceAllele": "A",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NP_036193.2:p.Ala192Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384367791",
          "hgvs": "NM_012063.4:c.575C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172813"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=439517[alleleid]",
        "alleleId": 439517,
        "preferredName": "NM_012062.5(DNM1L):c.575C>A (p.Ala192Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446170",
        "RCV": [
          "RCV000515455"
        ],
        "variationId": 446170
      }
    ]
  },
  "type": "amino-acid"
}