{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139711315",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 233,
          "referenceAllele": "S",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015685",
      "geneNCBI_id": 11041,
      "geneSymbol": "B4GAT1",
      "hgvs": [
        "NP_006867.1:p.Ser233Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6120518",
          "hgvs": "NM_006876.3:c.699C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381417845",
          "hgvs": "NM_006876.3:c.699C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381417851",
          "hgvs": "NM_006876.3:c.697A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172389"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=838807[alleleid]",
        "alleleId": 838807,
        "preferredName": "NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/852491",
        "RCV": [
          "RCV001057108"
        ],
        "variationId": 852491
      }
    ]
  },
  "type": "amino-acid"
}