{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645385932",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 229,
          "referenceAllele": "F",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "NP_001900.1:p.Phe229del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044399",
          "hgvs": "NM_001909.5:c.686_688del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167792"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362445[alleleid]",
        "alleleId": 362445,
        "preferredName": "NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375630",
        "RCV": [
          "RCV000417103",
          "RCV002521500"
        ],
        "variationId": 375630
      }
    ]
  },
  "type": "amino-acid"
}