{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA106160",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 4650,
          "referenceAllele": "L",
          "start": 4649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_000531.2:p.Leu4650Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024091",
          "hgvs": "NM_000540.3:c.13949T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76869[alleleid]",
        "alleleId": 76869,
        "preferredName": "NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65961",
        "RCV": [
          "RCV000056208",
          "RCV000119493",
          "RCV001039994"
        ],
        "variationId": 65961
      }
    ]
  },
  "type": "amino-acid"
}