{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913193388",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 4111,
          "referenceAllele": "N",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Asn4111His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA085169",
          "hgvs": "NM_001035.3:c.12331A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=616081[alleleid]",
        "alleleId": 616081,
        "preferredName": "NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/629337",
        "RCV": [
          "RCV000774039",
          "RCV002534110",
          "RCV003317362",
          "RCV004001343",
          "RCV004027260"
        ],
        "variationId": 629337
      }
    ]
  },
  "type": "amino-acid"
}