{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA132963",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "E",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Glu1127Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009209",
          "hgvs": "NM_001035.3:c.3380A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52938[alleleid]",
        "alleleId": 52938,
        "preferredName": "NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43769",
        "RCV": [
          "RCV000036729",
          "RCV000157454",
          "RCV000171762",
          "RCV000769783",
          "RCV000845327",
          "RCV001098853",
          "RCV001098854",
          "RCV001293091",
          "RCV001254751",
          "RCV002453307"
        ],
        "variationId": 43769
      }
    ]
  },
  "type": "amino-acid"
}