{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825964576",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 406,
          "referenceAllele": "F",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NP_001157289.1:p.Phe406Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA381701426",
          "hgvs": "NM_001163817.2:c.1218C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381701427",
          "hgvs": "NM_001163817.2:c.1218C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381701436",
          "hgvs": "NM_001163817.2:c.1216T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154896"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=935772[alleleid]",
        "alleleId": 935772,
        "preferredName": "NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/938032",
        "RCV": [
          "RCV001207177",
          "RCV001819896",
          "RCV002509629"
        ],
        "variationId": 938032
      }
    ]
  },
  "type": "amino-acid"
}