{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827653164",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 571,
          "referenceAllele": "D",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NP_001339445.1:p.Asp571Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278019",
          "hgvs": "NM_001352516.2:c.1711G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625396"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16947[alleleid]",
        "alleleId": 16947,
        "preferredName": "NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1908",
        "RCV": [
          "RCV000001985",
          "RCV003328550"
        ],
        "variationId": 1908
      }
    ]
  },
  "type": "amino-acid"
}