{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829809144",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 4205,
          "referenceAllele": "T",
          "start": 4204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017084",
      "geneNCBI_id": 23224,
      "geneSymbol": "SYNE2",
      "hgvs": [
        "NP_055995.4:p.Thr4205Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7222222",
          "hgvs": "NM_015180.5:c.12614C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174345"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338299[alleleid]",
        "alleleId": 338299,
        "preferredName": "NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/313577",
        "RCV": [
          "RCV000699066",
          "RCV001288052",
          "RCV004021591"
        ],
        "variationId": 313577
      }
    ]
  },
  "type": "amino-acid"
}