{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580336607",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 120,
          "referenceAllele": "K",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010863",
      "geneNCBI_id": 6483,
      "geneSymbol": "ST3GAL2",
      "hgvs": [
        "NP_008858.1:p.Lys120Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8142532",
          "hgvs": "NM_006927.4:c.358A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172433"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2385900[alleleid]",
        "alleleId": 2385900,
        "preferredName": "NM_006927.4(ST3GAL2):c.358A>G (p.Lys120Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2398241",
        "RCV": [
          "RCV004226939"
        ],
        "variationId": 2398241
      }
    ]
  },
  "type": "amino-acid"
}