{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA270086",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 255,
          "referenceAllele": "R",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NP_004174.1:p.Arg255Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270085",
          "hgvs": "NM_004183.3:c.763C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169905"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152845[alleleid]",
        "alleleId": 152845,
        "preferredName": "NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143127",
        "RCV": [
          "RCV000132651",
          "RCV001781480",
          "RCV002478405",
          "RCV003888561"
        ],
        "variationId": 143127
      }
    ]
  },
  "type": "amino-acid"
}