{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825484139",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "referenceAllele": "A",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026113",
      "geneNCBI_id": 79600,
      "geneSymbol": "TCTN1",
      "hgvs": [
        "NP_001076006.1:p.Ala314Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA272717",
          "hgvs": "NM_001082537.3:c.940G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150837"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168895[alleleid]",
        "alleleId": 168895,
        "preferredName": "NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/160100",
        "RCV": [
          "RCV000147738",
          "RCV002055937"
        ],
        "variationId": 160100
      }
    ]
  },
  "type": "amino-acid"
}