{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825918285",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 657,
          "referenceAllele": "D",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001155898.1:p.Asp657Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA005685",
          "hgvs": "NM_001162426.2:c.1971C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375362316",
          "hgvs": "NM_001162426.2:c.1971C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154783"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58023[alleleid]",
        "alleleId": 58023,
        "preferredName": "NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1446275[alleleid]",
        "alleleId": 1446275,
        "preferredName": "NM_000368.5(TSC1):c.1974C>A (p.Asp658Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48861",
        "RCV": [
          "RCV000042112",
          "RCV000841758",
          "RCV001056632",
          "RCV002255265"
        ],
        "variationId": 48861
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1492044",
        "RCV": [
          "RCV001989095"
        ],
        "variationId": 1492044
      }
    ]
  },
  "type": "amino-acid"
}