{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828103458",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 278,
          "referenceAllele": "I",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_001350624.1:p.Ile278Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA247958",
          "hgvs": "NM_001363695.2:c.832A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS619911"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196169[alleleid]",
        "alleleId": 196169,
        "preferredName": "NM_000310.4(PPT1):c.904A>G (p.Ile302Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199009",
        "RCV": [
          "RCV000515384",
          "RCV000435004",
          "RCV002317064",
          "RCV001252358",
          "RCV001706153",
          "RCV003955098"
        ],
        "variationId": 199009
      }
    ]
  },
  "type": "amino-acid"
}