{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645418111",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2265,
          "referenceAllele": "I",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "NP_003117.2:p.Ile2265Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1181833",
          "hgvs": "NM_003126.2:c.6794T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=249425[alleleid]",
        "alleleId": 249425,
        "preferredName": "NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/258957",
        "RCV": [
          "RCV000248352",
          "RCV000269117",
          "RCV000313584",
          "RCV000363626",
          "RCV001696195"
        ],
        "variationId": 258957
      }
    ]
  },
  "type": "amino-acid"
}