{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499295717",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 391,
          "referenceAllele": "S",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007370",
      "geneNCBI_id": 10943,
      "geneSymbol": "MSL3",
      "hgvs": [
        "NP_523352.1:p.Ser391Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412066331",
          "hgvs": "NM_078628.2:c.1171A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412066337",
          "hgvs": "NM_078628.2:c.1173T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412066339",
          "hgvs": "NM_078628.2:c.1173T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180648"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1200218[alleleid]",
        "alleleId": 1200218,
        "preferredName": "NM_078629.4(MSL3):c.1171+2T>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1210216",
        "RCV": [
          "RCV001580274"
        ],
        "variationId": 1210216
      }
    ]
  },
  "type": "amino-acid"
}