{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA106762",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 289,
          "referenceAllele": "T",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NP_001157289.1:p.Thr289Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253946",
          "hgvs": "NM_001163817.2:c.866C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154896"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21828[alleleid]",
        "alleleId": 21828,
        "preferredName": "NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6789",
        "RCV": [
          "RCV000007191",
          "RCV000412788",
          "RCV002371766"
        ],
        "variationId": 6789
      }
    ]
  },
  "type": "amino-acid"
}