{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828609075",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 118,
          "referenceAllele": "E",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NP_001362369.1:p.Glu118Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7268145",
          "hgvs": "NM_001375440.1:c.352G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706256"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=585157[alleleid]",
        "alleleId": 585157,
        "preferredName": "NM_006432.5(NPC2):c.352G>A (p.Glu118Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/594094",
        "RCV": [
          "RCV000729307",
          "RCV002535113"
        ],
        "variationId": 594094
      }
    ]
  },
  "type": "amino-acid"
}