{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645392967",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 262,
          "referenceAllele": "E",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024464",
      "geneNCBI_id": 113189,
      "geneSymbol": "CHST14",
      "hgvs": [
        "NP_569735.1:p.Glu262Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA391767055",
          "hgvs": "NM_130468.4:c.784G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180895"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=429647[alleleid]",
        "alleleId": 429647,
        "preferredName": "NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/434766",
        "RCV": [
          "RCV000500082",
          "RCV001561424",
          "RCV002271341",
          "RCV003962376"
        ],
        "variationId": 434766
      }
    ]
  },
  "type": "amino-acid"
}