{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA148100",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 3069,
          "referenceAllele": "T",
          "start": 3068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NP_004360.2:p.Thr3069Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA148098",
          "hgvs": "NM_004369.4:c.9206C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100918[alleleid]",
        "alleleId": 100918,
        "preferredName": "NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95018",
        "RCV": [
          "RCV000081023",
          "RCV000365788",
          "RCV001516614",
          "RCV001664377",
          "RCV001664378"
        ],
        "variationId": 95018
      }
    ]
  },
  "type": "amino-acid"
}