{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117649",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 270,
          "referenceAllele": "R",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000930",
      "geneNCBI_id": 11285,
      "geneSymbol": "B4GALT7",
      "hgvs": [
        "NP_009186.1:p.Arg270Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117648",
          "hgvs": "NM_007255.3:c.808C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172712"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20652[alleleid]",
        "alleleId": 20652,
        "preferredName": "NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5613",
        "RCV": [
          "RCV000005965",
          "RCV000258718",
          "RCV000413846",
          "RCV000779599",
          "RCV002482832"
        ],
        "variationId": 5613
      }
    ]
  },
  "type": "amino-acid"
}