{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA144286",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1250,
          "referenceAllele": "S",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "NP_001072.2:p.Ser1250Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA144284",
          "hgvs": "NM_001081.4:c.3749C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150523"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70975[alleleid]",
        "alleleId": 70975,
        "preferredName": "NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56336",
        "RCV": [
          "RCV000049748"
        ],
        "variationId": 56336
      }
    ]
  },
  "type": "amino-acid"
}