{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916054573",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 680,
          "referenceAllele": "R",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "NP_478055.2:p.Arg680His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA147453",
          "hgvs": "NM_058175.3:c.2039G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180602"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99831[alleleid]",
        "alleleId": 99831,
        "preferredName": "NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93929",
        "RCV": [
          "RCV000079868",
          "RCV000320471",
          "RCV000380396",
          "RCV000710891",
          "RCV000990369",
          "RCV001664320"
        ],
        "variationId": 93929
      }
    ]
  },
  "type": "amino-acid"
}