{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645455416",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 2053,
          "referenceAllele": "G",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NP_004360.2:p.Gly2053Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10602841",
          "hgvs": "NM_004369.4:c.6158G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264078[alleleid]",
        "alleleId": 264078,
        "preferredName": "NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280028",
        "RCV": [
          "RCV000334260",
          "RCV001059032"
        ],
        "variationId": 280028
      }
    ]
  },
  "type": "amino-acid"
}