{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826865205",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 348,
          "referenceAllele": "V",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NP_001288068.1:p.Val348Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4348613",
          "hgvs": "NM_001301139.2:c.1042G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368228995",
          "hgvs": "NM_001301139.2:c.1042G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165592"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=683948[alleleid]",
        "alleleId": 683948,
        "preferredName": "NM_003919.3(SGCE):c.1165G>C (p.Val389Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/696425",
        "RCV": [
          "RCV000862771",
          "RCV001567616"
        ],
        "variationId": 696425
      }
    ]
  },
  "type": "amino-acid"
}