{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829458070",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1072,
          "referenceAllele": "I",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "NP_003929.4:p.Ile1072Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9058403",
          "hgvs": "NM_003938.6:c.3214A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169690"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1013629[alleleid]",
        "alleleId": 1013629,
        "preferredName": "NM_001261826.3(AP3D1):c.3400A>C (p.Ile1134Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1023191",
        "RCV": [
          "RCV001323198",
          "RCV002546101"
        ],
        "variationId": 1023191
      }
    ]
  },
  "type": "amino-acid"
}