{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830085213",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3725,
          "referenceAllele": "T",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NP_149062.2:p.Thr3725Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4056751",
          "hgvs": "NM_033071.5:c.11173A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734835"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266351[alleleid]",
        "alleleId": 266351,
        "preferredName": "NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282114",
        "RCV": [
          "RCV000286476",
          "RCV000341441",
          "RCV000713581",
          "RCV000701706",
          "RCV001535685"
        ],
        "variationId": 282114
      }
    ]
  },
  "type": "amino-acid"
}