{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139677577",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 4002,
          "referenceAllele": "M",
          "start": 4001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Met4002Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA345411873",
          "hgvs": "NM_001035.3:c.12006G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345411874",
          "hgvs": "NM_001035.3:c.12006G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345411875",
          "hgvs": "NM_001035.3:c.12006G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=857640[alleleid]",
        "alleleId": 857640,
        "preferredName": "NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/869430",
        "RCV": [
          "RCV001089520"
        ],
        "variationId": 869430
      }
    ]
  },
  "type": "amino-acid"
}