{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA306893",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 13,
          "referenceAllele": "F",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Phe13Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009352",
          "hgvs": "NM_001035.3:c.37T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345654218",
          "hgvs": "NM_001035.3:c.39C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345654219",
          "hgvs": "NM_001035.3:c.39C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196504[alleleid]",
        "alleleId": 196504,
        "preferredName": "NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=987357[alleleid]",
        "alleleId": 987357,
        "preferredName": "NM_001035.3(RYR2):c.39C>G (p.Phe13Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201289",
        "RCV": [
          "RCV000551463",
          "RCV000242738",
          "RCV002516887"
        ],
        "variationId": 201289
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1006238",
        "RCV": [
          "RCV001508968",
          "RCV002544636"
        ],
        "variationId": 1006238
      }
    ]
  },
  "type": "amino-acid"
}