{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830147699",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NP_476507.3:p.Gly1350Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2188547",
          "hgvs": "NM_057166.5:c.4048G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351219863",
          "hgvs": "NM_057166.5:c.4048G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180579"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=450881[alleleid]",
        "alleleId": 450881,
        "preferredName": "NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/476541",
        "RCV": [
          "RCV000537596",
          "RCV001591299"
        ],
        "variationId": 476541
      }
    ]
  },
  "type": "amino-acid"
}