{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828066744",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 105,
          "referenceAllele": "L",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NP_001349738.1:p.Leu105Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4348802",
          "hgvs": "NM_001362809.2:c.313T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622615"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271457[alleleid]",
        "alleleId": 271457,
        "preferredName": "NM_003919.3(SGCE):c.436T>A (p.Leu146Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287220",
        "RCV": [
          "RCV000337420",
          "RCV001083911",
          "RCV003977788"
        ],
        "variationId": 287220
      }
    ]
  },
  "type": "amino-acid"
}