{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829061576",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 344,
          "referenceAllele": "S",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NP_001372956.1:p.Ser344Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA205518",
          "hgvs": "NM_001386027.1:c.1031C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735782"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207867[alleleid]",
        "alleleId": 207867,
        "preferredName": "NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210545",
        "RCV": [
          "RCV000192598",
          "RCV001083233",
          "RCV001174400",
          "RCV000766869",
          "RCV002467651",
          "RCV002433863",
          "RCV003884385"
        ],
        "variationId": 210545
      }
    ]
  },
  "type": "amino-acid"
}