{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828115784",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 305,
          "referenceAllele": "T",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_001350740.1:p.Thr305Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2829476",
          "hgvs": "NM_001363811.2:c.914C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660449"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=453907[alleleid]",
        "alleleId": 453907,
        "preferredName": "NM_173660.5(DOK7):c.1346C>T (p.Thr449Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/465676",
        "RCV": [
          "RCV000554715",
          "RCV001662553"
        ],
        "variationId": 465676
      }
    ]
  },
  "type": "amino-acid"
}