{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580160570",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 75,
          "referenceAllele": "E",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_001136076.1:p.Glu75Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA339848482",
          "hgvs": "NM_001142604.2:c.224A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153469"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1928384[alleleid]",
        "alleleId": 1928384,
        "preferredName": "NM_000310.4(PPT1):c.533A>T (p.Glu178Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2202734",
        "RCV": [
          "RCV002630060"
        ],
        "variationId": 2202734
      }
    ]
  },
  "type": "amino-acid"
}