{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645426116",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 368,
          "referenceAllele": "V",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NP_000775.1:p.Val368Leu"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA2112801",
          "hgvs": "NM_000784.4:c.1102G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10605606",
          "hgvs": "NM_000784.4:c.1102_1104delinsTTA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA350591971",
          "hgvs": "NM_000784.4:c.1102G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271128[alleleid]",
        "alleleId": 271128,
        "preferredName": "NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=708041[alleleid]",
        "alleleId": 708041,
        "preferredName": "NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/286891",
        "RCV": [
          "RCV000365107",
          "RCV003372678",
          "RCV003897623"
        ],
        "variationId": 286891
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/785765",
        "RCV": [
          "RCV000967698",
          "RCV001698676"
        ],
        "variationId": 785765
      }
    ]
  },
  "type": "amino-acid"
}