{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916065861",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 121,
          "referenceAllele": "I",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NP_775110.1:p.Ile121Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA269832799",
          "hgvs": "NM_173087.2:c.363C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183288"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488401[alleleid]",
        "alleleId": 488401,
        "preferredName": "NM_000070.3(CAPN3):c.363C>G (p.Ile121Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496977",
        "RCV": [
          "RCV000595690",
          "RCV002532362"
        ],
        "variationId": 496977
      }
    ]
  },
  "type": "amino-acid"
}