{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827045685",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028805",
      "geneNCBI_id": 80305,
      "geneSymbol": "TRABD",
      "hgvs": [
        "NP_001307413.1:p.Ala246Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10305908",
          "hgvs": "NM_001320484.2:c.736G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS652434"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3344039[alleleid]",
        "alleleId": 3344039,
        "preferredName": "NM_001320485.2(TRABD):c.724G>A (p.Ala242Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3181728",
        "RCV": [
          "RCV004471075"
        ],
        "variationId": 3181728
      }
    ]
  },
  "type": "amino-acid"
}