{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057245964",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 120,
          "referenceAllele": "NLLNDIVI",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NP_001963.1:p.Asn113_Ile120del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10583967",
          "hgvs": "NM_001972.4:c.336_359del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167853"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243870[alleleid]",
        "alleleId": 243870,
        "preferredName": "NM_001972.4(ELANE):c.336_359del (p.Asn113_Ile120del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242297",
        "RCV": [
          "RCV000234597"
        ],
        "variationId": 242297
      }
    ]
  },
  "type": "amino-acid"
}