{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057587559",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 327,
          "referenceAllele": "L",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NP_000046.1:p.Leu327His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA355111665",
          "hgvs": "NM_000055.4:c.980T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146608"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3941963[alleleid]",
        "alleleId": 3941963,
        "preferredName": "NM_000055.4(BCHE):c.980T>A (p.Leu327His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3823374",
        "RCV": [
          "RCV005303403"
        ],
        "variationId": 3823374
      }
    ]
  },
  "type": "amino-acid"
}