{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA215995",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 268,
          "referenceAllele": "G",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "NP_478054.2:p.Gly268Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA215992",
          "hgvs": "NM_058174.3:c.803G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71514[alleleid]",
        "alleleId": 71514,
        "preferredName": "NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56908",
        "RCV": [
          "RCV000050246"
        ],
        "variationId": 56908
      }
    ]
  },
  "type": "amino-acid"
}