{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101249",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 267,
          "referenceAllele": "R",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "NP_000169.1:p.Arg267Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119692",
          "hgvs": "NM_000178.2:c.799C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146728"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23566[alleleid]",
        "alleleId": 23566,
        "preferredName": "NM_000178.4(GSS):c.799C>T (p.Arg267Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8527",
        "RCV": [
          "RCV000009053"
        ],
        "variationId": 8527
      }
    ]
  },
  "type": "amino-acid"
}