{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645439178",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 131,
          "referenceAllele": "I",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NP_003910.1:p.Ile131Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4348814",
          "hgvs": "NM_003919.3:c.391A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169673"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361528[alleleid]",
        "alleleId": 361528,
        "preferredName": "NM_003919.3(SGCE):c.391A>G (p.Ile131Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374642",
        "RCV": [
          "RCV000416039",
          "RCV000689645",
          "RCV002469145",
          "RCV003362776"
        ],
        "variationId": 374642
      }
    ]
  },
  "type": "amino-acid"
}