{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916054241",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 283,
          "referenceAllele": "G",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "NP_478055.2:p.Gly283Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127112",
          "hgvs": "NM_058175.3:c.847G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410524878",
          "hgvs": "NM_058175.3:c.847G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180602"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32206[alleleid]",
        "alleleId": 32206,
        "preferredName": "NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=860695[alleleid]",
        "alleleId": 860695,
        "preferredName": "NM_001849.4(COL6A2):c.847G>C (p.Gly283Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17167",
        "RCV": [
          "RCV000269898",
          "RCV000816890",
          "RCV003764603"
        ],
        "variationId": 17167
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/871767",
        "RCV": [
          "RCV001091898"
        ],
        "variationId": 871767
      }
    ]
  },
  "type": "amino-acid"
}