{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827436277",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 281,
          "referenceAllele": "S",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NP_001335181.1:p.Ser281Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16617801",
          "hgvs": "NM_001348252.2:c.843C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351791459",
          "hgvs": "NM_001348252.2:c.841A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351791465",
          "hgvs": "NM_001348252.2:c.843C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622682"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406083[alleleid]",
        "alleleId": 406083,
        "preferredName": "NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=559277[alleleid]",
        "alleleId": 559277,
        "preferredName": "NM_003042.4(SLC6A1):c.1377C>G (p.Ser459Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421382",
        "RCV": [
          "RCV000487237",
          "RCV000850413"
        ],
        "variationId": 421382
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/570384",
        "RCV": [
          "RCV003596502",
          "RCV003444640"
        ],
        "variationId": 570384
      }
    ]
  },
  "type": "amino-acid"
}