{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828608827",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1,
          "referenceAllele": "M",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NP_001362369.1:p.Met1Thr"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706256"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547290[alleleid]",
        "alleleId": 547290,
        "preferredName": "NM_006432.5(NPC2):c.2T>C (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553474",
        "RCV": [
          "RCV000668937"
        ],
        "variationId": 553474
      }
    ]
  },
  "type": "amino-acid"
}