{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099458",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2069,
          "referenceAllele": "R",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "NP_000085.1:p.Arg2069Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127208",
          "hgvs": "NM_000094.4:c.6205C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146646"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32502[alleleid]",
        "alleleId": 32502,
        "preferredName": "NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17463",
        "RCV": [
          "RCV000019015",
          "RCV000626608",
          "RCV000414882",
          "RCV001251179",
          "RCV000498291",
          "RCV002496411",
          "RCV001199071",
          "RCV001352770",
          "RCV002276566",
          "RCV003924844"
        ],
        "variationId": 17463
      }
    ]
  },
  "type": "amino-acid"
}