{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA149258",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1200,
          "referenceAllele": "E",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NP_077288.2:p.Glu1200Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA149257",
          "hgvs": "NM_024312.5:c.3598G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78998[alleleid]",
        "alleleId": 78998,
        "preferredName": "NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68107",
        "RCV": [
          "RCV000058936",
          "RCV000082193",
          "RCV001084285",
          "RCV001110621",
          "RCV001110620"
        ],
        "variationId": 68107
      }
    ]
  },
  "type": "amino-acid"
}