{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827016742",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 12,
          "referenceAllele": "M",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305761.1:p.Met12Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA019804",
          "hgvs": "NM_001318832.2:c.36G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394300412",
          "hgvs": "NM_001318832.2:c.36G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394300423",
          "hgvs": "NM_001318832.2:c.36G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76216[alleleid]",
        "alleleId": 76216,
        "preferredName": "NM_000548.5(TSC2):c.3G>A (p.Met1Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=584875[alleleid]",
        "alleleId": 584875,
        "preferredName": "NM_000548.5(TSC2):c.3G>T (p.Met1Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65284",
        "RCV": [
          "RCV000055506",
          "RCV003512008"
        ],
        "variationId": 65284
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/593812",
        "RCV": [
          "RCV000728954"
        ],
        "variationId": 593812
      }
    ]
  },
  "type": "amino-acid"
}