{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645390238",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 3148,
          "referenceAllele": "V",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Val3148Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10576409",
          "hgvs": "NM_001035.3:c.9442G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=228392[alleleid]",
        "alleleId": 228392,
        "preferredName": "NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/229226",
        "RCV": [
          "RCV000771970",
          "RCV001249323",
          "RCV001762465",
          "RCV002444864",
          "RCV002485398",
          "RCV003997755",
          "RCV000223326"
        ],
        "variationId": 229226
      }
    ]
  },
  "type": "amino-acid"
}