{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA221658",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 462,
          "referenceAllele": "Y",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NP_001351.2:p.Tyr462His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221656",
          "hgvs": "NM_001360.3:c.1384T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99614[alleleid]",
        "alleleId": 99614,
        "preferredName": "NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93711",
        "RCV": [
          "RCV000079645",
          "RCV000411557"
        ],
        "variationId": 93711
      }
    ]
  },
  "type": "amino-acid"
}