{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826764720",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 347,
          "referenceAllele": "R",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NP_001276324.1:p.Arg347Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259774",
          "hgvs": "NM_001289395.2:c.1039C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164344"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39217[alleleid]",
        "alleleId": 39217,
        "preferredName": "NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30261",
        "RCV": [
          "RCV000023188",
          "RCV000852373",
          "RCV003556074"
        ],
        "variationId": 30261
      }
    ]
  },
  "type": "amino-acid"
}