{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830147784",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NP_476507.3:p.Gly1446Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351217575",
          "hgvs": "NM_057166.5:c.4337G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180579"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2743390[alleleid]",
        "alleleId": 2743390,
        "preferredName": "NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2578456",
        "RCV": [
          "RCV003326232",
          "RCV003631310"
        ],
        "variationId": 2578456
      }
    ]
  },
  "type": "amino-acid"
}