{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645485989",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NP_001351.2:p.Gly425Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6162273",
          "hgvs": "NM_001360.3:c.1273G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=315073[alleleid]",
        "alleleId": 315073,
        "preferredName": "NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/305953",
        "RCV": [
          "RCV000316974",
          "RCV000595632",
          "RCV002374522",
          "RCV003920263"
        ],
        "variationId": 305953
      }
    ]
  },
  "type": "amino-acid"
}