{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826849777",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 167,
          "referenceAllele": "Y",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NP_001287715.1:p.Tyr167Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA227804",
          "hgvs": "NM_001300786.2:c.499T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165312"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17770[alleleid]",
        "alleleId": 17770,
        "preferredName": "NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2731",
        "RCV": [
          "RCV000002850",
          "RCV000086157",
          "RCV001073354"
        ],
        "variationId": 2731
      }
    ]
  },
  "type": "amino-acid"
}