{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645418791",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 53,
          "referenceAllele": "T",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025567",
      "geneNCBI_id": 55210,
      "geneSymbol": "ATAD3A",
      "hgvs": [
        "NP_060658.3:p.Thr53Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16040615",
          "hgvs": "NM_018188.4:c.158C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176055"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227512[alleleid]",
        "alleleId": 227512,
        "preferredName": "NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225697",
        "RCV": [
          "RCV000412620",
          "RCV000488882",
          "RCV000584950",
          "RCV003992236"
        ],
        "variationId": 225697
      }
    ]
  },
  "type": "amino-acid"
}