{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829619154",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NP_005681.2:p.Cys446Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10584093",
          "hgvs": "NM_005690.5:c.1337G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171309"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244178[alleleid]",
        "alleleId": 244178,
        "preferredName": "NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/243096",
        "RCV": [
          "RCV000237095"
        ],
        "variationId": 243096
      }
    ]
  },
  "type": "amino-acid"
}