{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645460968",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 191,
          "referenceAllele": "R",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NP_001963.1:p.Arg191Ser"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA9026096",
          "hgvs": "NM_001972.4:c.573G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA402918731",
          "hgvs": "NM_001972.4:c.573G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167853"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243866[alleleid]",
        "alleleId": 243866,
        "preferredName": "NM_001972.4(ELANE):c.573G>C (p.Arg191Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=998876[alleleid]",
        "alleleId": 998876,
        "preferredName": "NM_001972.4(ELANE):c.573G>T (p.Arg191Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242308",
        "RCV": [
          "RCV000232592"
        ],
        "variationId": 242308
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1009601",
        "RCV": [
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        ],
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      }
    ]
  },
  "type": "amino-acid"
}