{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA147382",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 850,
          "referenceAllele": "R",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "NP_001839.2:p.Arg850His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA147380",
          "hgvs": "NM_001848.3:c.2549G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167732"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99763[alleleid]",
        "alleleId": 99763,
        "preferredName": "NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93861",
        "RCV": [
          "RCV000079798",
          "RCV000305303",
          "RCV000576724",
          "RCV001521148",
          "RCV001664293"
        ],
        "variationId": 93861
      }
    ]
  },
  "type": "amino-acid"
}