{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645483184",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 201,
          "referenceAllele": "L",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NP_002171.2:p.Leu201Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6153338",
          "hgvs": "NM_002180.3:c.602T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=254293[alleleid]",
        "alleleId": 254293,
        "preferredName": "NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/258576",
        "RCV": [
          "RCV000248264",
          "RCV000576822",
          "RCV001173351",
          "RCV001520688",
          "RCV001711806",
          "RCV001729493"
        ],
        "variationId": 258576
      }
    ]
  },
  "type": "amino-acid"
}