{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916073636",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "I",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NP_077288.2:p.Ile478Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6746607",
          "hgvs": "NM_024312.5:c.1433T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=713282[alleleid]",
        "alleleId": 713282,
        "preferredName": "NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/786142",
        "RCV": [
          "RCV000968156",
          "RCV001112784",
          "RCV001114128",
          "RCV003392711"
        ],
        "variationId": 786142
      }
    ]
  },
  "type": "amino-acid"
}