{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA346992",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 350,
          "referenceAllele": "L",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NP_212134.3:p.Leu350Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346991",
          "hgvs": "NM_033409.4:c.1048T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180246"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=206614[alleleid]",
        "alleleId": 206614,
        "preferredName": "NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210024",
        "RCV": [
          "RCV000191969",
          "RCV000514570",
          "RCV000604517"
        ],
        "variationId": 210024
      }
    ]
  },
  "type": "amino-acid"
}