{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580253446",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 72,
          "referenceAllele": "V",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NP_001963.1:p.Val72Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA402914944",
          "hgvs": "NM_001972.4:c.214G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA402914946",
          "hgvs": "NM_001972.4:c.214G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167853"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1918590[alleleid]",
        "alleleId": 1918590,
        "preferredName": "NM_001972.4(ELANE):c.214G>C (p.Val72Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2188546",
        "RCV": [
          "RCV002620309"
        ],
        "variationId": 2188546
      }
    ]
  },
  "type": "amino-acid"
}