{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645474043",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1040,
          "referenceAllele": "E",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NP_000159.3:p.Glu1040Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4230443",
          "hgvs": "NM_000168.6:c.3118G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146718"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259861[alleleid]",
        "alleleId": 259861,
        "preferredName": "NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265182",
        "RCV": [
          "RCV000255158",
          "RCV000273966",
          "RCV000329014",
          "RCV000387520",
          "RCV000764715"
        ],
        "variationId": 265182
      }
    ]
  },
  "type": "amino-acid"
}