{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828115487",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 107,
          "referenceAllele": "A",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_001350740.1:p.Ala107Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2829168",
          "hgvs": "NM_001363811.2:c.320C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660449"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016413[alleleid]",
        "alleleId": 1016413,
        "preferredName": "NM_173660.5(DOK7):c.752C>A (p.Ala251Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1027869",
        "RCV": [
          "RCV001328763",
          "RCV001360948",
          "RCV002546275"
        ],
        "variationId": 1027869
      }
    ]
  },
  "type": "amino-acid"
}