{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA300250",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 251,
          "referenceAllele": "I",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NP_000537.3:p.Ile251Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA000394",
          "hgvs": "NM_000546.6:c.751A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3063911171",
          "hgvs": "NM_000546.6:c.750_751delinsAC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147081"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180998[alleleid]",
        "alleleId": 180998,
        "preferredName": "NM_000546.6(TP53):c.751A>C (p.Ile251Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/182937",
        "RCV": [
          "RCV000161037",
          "RCV000492548",
          "RCV000785277",
          "RCV002280104",
          "RCV002288694"
        ],
        "variationId": 182937
      }
    ]
  },
  "type": "amino-acid"
}