{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109457",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 517,
          "referenceAllele": "L",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NP_945345.2:p.Leu517Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259991",
          "hgvs": "NM_198994.3:c.1550T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185316"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40042[alleleid]",
        "alleleId": 40042,
        "preferredName": "NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31085",
        "RCV": [
          "RCV000024080",
          "RCV000077795",
          "RCV001659727",
          "RCV002054471"
        ],
        "variationId": 31085
      }
    ]
  },
  "type": "amino-acid"
}