{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658661249",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 476,
          "referenceAllele": "F",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029514",
      "geneNCBI_id": 342035,
      "geneSymbol": "GLDN",
      "hgvs": [
        "NP_861454.2:p.Phe476Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7560758",
          "hgvs": "NM_181789.4:c.1428C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392435275",
          "hgvs": "NM_181789.4:c.1426T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392435286",
          "hgvs": "NM_181789.4:c.1428C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184385"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445387[alleleid]",
        "alleleId": 445387,
        "preferredName": "NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/452116",
        "RCV": [
          "RCV000524042",
          "RCV000855464"
        ],
        "variationId": 452116
      }
    ]
  },
  "type": "amino-acid"
}