{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645388502",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 464,
          "referenceAllele": "H",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.His464Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA085521",
          "hgvs": "NM_001035.3:c.1392C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345380412",
          "hgvs": "NM_001035.3:c.1392C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=419263[alleleid]",
        "alleleId": 419263,
        "preferredName": "NM_001035.3(RYR2):c.1392C>A (p.His464Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3544813[alleleid]",
        "alleleId": 3544813,
        "preferredName": "NM_001035.3(RYR2):c.1392C>G (p.His464Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427953",
        "RCV": [
          "RCV000498149",
          "RCV000522514",
          "RCV000769774",
          "RCV002489201",
          "RCV004023275",
          "RCV002526064",
          "RCV004003435"
        ],
        "variationId": 427953
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3385672",
        "RCV": [
          "RCV004805437"
        ],
        "variationId": 3385672
      }
    ]
  },
  "type": "amino-acid"
}