{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139706559",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6,
          "referenceAllele": "T",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NP_004174.1:p.Thr6Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA380830940",
          "hgvs": "NM_004183.3:c.16A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169905"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=838601[alleleid]",
        "alleleId": 838601,
        "preferredName": "NM_004183.4(BEST1):c.16A>G (p.Thr6Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/858577",
        "RCV": [
          "RCV001064472",
          "RCV001074422"
        ],
        "variationId": 858577
      }
    ]
  },
  "type": "amino-acid"
}