{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA340354",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "E",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003098",
      "geneNCBI_id": 1861,
      "geneSymbol": "TOR1A",
      "hgvs": [
        "NP_000104.1:p.Glu303del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340352",
          "hgvs": "NM_000113.3:c.907_909del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146664"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20219[alleleid]",
        "alleleId": 20219,
        "preferredName": "NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5180",
        "RCV": [
          "RCV000005488",
          "RCV000412981",
          "RCV000584141",
          "RCV001266579",
          "RCV002504750",
          "RCV003335014"
        ],
        "variationId": 5180
      }
    ]
  },
  "type": "amino-acid"
}