{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA340614",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 352,
          "referenceAllele": "R",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NP_001351.2:p.Arg352Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340612",
          "hgvs": "NM_001360.3:c.1054C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21826[alleleid]",
        "alleleId": 21826,
        "preferredName": "NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6787",
        "RCV": [
          "RCV000007189",
          "RCV000259783",
          "RCV001252750",
          "RCV003934805"
        ],
        "variationId": 6787
      }
    ]
  },
  "type": "amino-acid"
}