{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101451",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 101,
          "referenceAllele": "V",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NP_001963.1:p.Val101Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA303943293",
          "hgvs": "NM_001972.4:c.301G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167853"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=848189[alleleid]",
        "alleleId": 848189,
        "preferredName": "NM_001972.4(ELANE):c.301G>A (p.Val101Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/844491",
        "RCV": [
          "RCV001796353"
        ],
        "variationId": 844491
      }
    ]
  },
  "type": "amino-acid"
}