{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828719626",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "NP_001364415.1:p.Ala250Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA396891280",
          "hgvs": "NM_001377486.1:c.748G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710759"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2404549[alleleid]",
        "alleleId": 2404549,
        "preferredName": "NM_022041.4(GAN):c.1387G>A (p.Ala463Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2431043",
        "RCV": [
          "RCV003129576"
        ],
        "variationId": 2431043
      }
    ]
  },
  "type": "amino-acid"
}