{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828099026",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 243,
          "referenceAllele": "A",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NP_001350521.1:p.Ala243Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA227815",
          "hgvs": "NM_001363592.1:c.728C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17776[alleleid]",
        "alleleId": 17776,
        "preferredName": "NM_004183.4(BEST1):c.728C>T (p.Ala243Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2737",
        "RCV": [
          "RCV000002858",
          "RCV000086167",
          "RCV001075633",
          "RCV003326112",
          "RCV003448243"
        ],
        "variationId": 2737
      }
    ]
  },
  "type": "amino-acid"
}