{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658828957",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 450,
          "referenceAllele": "R",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NP_001351.2:p.Arg450His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA224323879",
          "hgvs": "NM_001360.3:c.1349G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546307[alleleid]",
        "alleleId": 546307,
        "preferredName": "NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558558",
        "RCV": [
          "RCV000674850",
          "RCV001556929",
          "RCV003226367",
          "RCV002317913"
        ],
        "variationId": 558558
      }
    ]
  },
  "type": "amino-acid"
}