{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109219",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 382,
          "referenceAllele": "F",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010701",
      "geneNCBI_id": 10484,
      "geneSymbol": "SEC23A",
      "hgvs": [
        "NP_006355.2:p.Phe382Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114858",
          "hgvs": "NM_006364.4:c.1144T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA389535253",
          "hgvs": "NM_006364.4:c.1146C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA389535254",
          "hgvs": "NM_006364.4:c.1146C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171918"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16267[alleleid]",
        "alleleId": 16267,
        "preferredName": "NM_006364.4(SEC23A):c.1144T>C (p.Phe382Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1228",
        "RCV": [
          "RCV000001287"
        ],
        "variationId": 1228
      }
    ]
  },
  "type": "amino-acid"
}