{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100855",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 57,
          "referenceAllele": "A",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NP_001963.1:p.Ala57Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16603237",
          "hgvs": "NM_001972.4:c.170C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167853"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363906[alleleid]",
        "alleleId": 363906,
        "preferredName": "NM_001972.4(ELANE):c.170C>T (p.Ala57Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377028",
        "RCV": [
          "RCV000429848"
        ],
        "variationId": 377028
      }
    ]
  },
  "type": "amino-acid"
}