{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101351",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 139,
          "referenceAllele": "P",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NP_001963.1:p.Pro139Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA281050",
          "hgvs": "NM_001972.4:c.416C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167853"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31782[alleleid]",
        "alleleId": 31782,
        "preferredName": "NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16743",
        "RCV": [
          "RCV000018227",
          "RCV000220001",
          "RCV001794456",
          "RCV002472319"
        ],
        "variationId": 16743
      }
    ]
  },
  "type": "amino-acid"
}