{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139668788",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NP_000159.3:p.Gly1208Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4230317",
          "hgvs": "NM_000168.6:c.3622G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146718"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=898089[alleleid]",
        "alleleId": 898089,
        "preferredName": "NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/908984",
        "RCV": [
          "RCV001159798",
          "RCV001159797",
          "RCV001159799",
          "RCV002557365"
        ],
        "variationId": 908984
      }
    ]
  },
  "type": "amino-acid"
}