{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645390388",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026527",
      "geneNCBI_id": 138050,
      "geneSymbol": "HGSNAT",
      "hgvs": [
        "NP_689632.2:p.Gly423Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16618645",
          "hgvs": "NM_152419.3:c.1267G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182383"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407393[alleleid]",
        "alleleId": 407393,
        "preferredName": "NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422050",
        "RCV": [
          "RCV000478090",
          "RCV000626050",
          "RCV001074815",
          "RCV001865466",
          "RCV003330719"
        ],
        "variationId": 422050
      }
    ]
  },
  "type": "amino-acid"
}