{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA263477",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46,
          "referenceAllele": "",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_000301.1:p.Cys46dup"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA263475",
          "hgvs": "NM_000310.4:c.135_137dup"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70819[alleleid]",
        "alleleId": 70819,
        "preferredName": "NM_000310.4(PPT1):c.135_137dup (p.Cys46dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56180",
        "RCV": [
          "RCV000049591"
        ],
        "variationId": 56180
      }
    ]
  },
  "type": "amino-acid"
}