{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573166597",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 421,
          "referenceAllele": "Q",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NP_000262.2:p.Gln421Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401777356",
          "hgvs": "NM_000271.5:c.1261C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146818"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1361994[alleleid]",
        "alleleId": 1361994,
        "preferredName": "NM_000271.5(NPC1):c.1261C>G (p.Gln421Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1440847",
        "RCV": [
          "RCV001950501",
          "RCV002442918"
        ],
        "variationId": 1440847
      }
    ]
  },
  "type": "amino-acid"
}