{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499245021",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 55,
          "referenceAllele": "T",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NP_001267716.1:p.Thr55Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA200832964",
          "hgvs": "NM_001280787.1:c.164C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162049"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1202313[alleleid]",
        "alleleId": 1202313,
        "preferredName": "NM_003172.4(SURF1):c.491C>T (p.Thr164Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1212319",
        "RCV": [
          "RCV001589557",
          "RCV001866121",
          "RCV003106238"
        ],
        "variationId": 1212319
      }
    ]
  },
  "type": "amino-acid"
}