{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA199623",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 408,
          "referenceAllele": "T",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NP_009185.2:p.Thr408del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA199622",
          "hgvs": "NM_007254.4:c.1221_1223del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188053[alleleid]",
        "alleleId": 188053,
        "preferredName": "NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190219",
        "RCV": [
          "RCV000170438",
          "RCV000500375",
          "RCV001093540",
          "RCV001226527",
          "RCV001268911"
        ],
        "variationId": 190219
      }
    ]
  },
  "type": "amino-acid"
}