{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825999349",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 99,
          "referenceAllele": "A",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_001158145.1:p.Ala99Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2828922",
          "hgvs": "NM_001164673.2:c.296C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155082"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=251451[alleleid]",
        "alleleId": 251451,
        "preferredName": "NM_173660.5(DOK7):c.296C>T (p.Ala99Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/262871",
        "RCV": [
          "RCV000252323",
          "RCV000818679",
          "RCV001334668",
          "RCV001509232"
        ],
        "variationId": 262871
      }
    ]
  },
  "type": "amino-acid"
}