{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091446",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 516,
          "referenceAllele": "L",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NP_000024.2:p.Leu516Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA415111279",
          "hgvs": "NM_000033.4:c.1547T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573159474",
          "hgvs": "NM_000033.4:c.1547_1548delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1475601[alleleid]",
        "alleleId": 1475601,
        "preferredName": "NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1833549[alleleid]",
        "alleleId": 1833549,
        "preferredName": "NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1469653",
        "RCV": [
          "RCV001973074"
        ],
        "variationId": 1469653
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1774964",
        "RCV": [
          "RCV002403288",
          "RCV003100714"
        ],
        "variationId": 1774964
      }
    ]
  },
  "type": "amino-acid"
}