{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112658",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 619,
          "referenceAllele": "S",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002974",
      "geneNCBI_id": 1785,
      "geneSymbol": "DNM2",
      "hgvs": [
        "NP_001005360.1:p.Ser619Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172110",
          "hgvs": "NM_001005360.3:c.1856C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148174"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22324[alleleid]",
        "alleleId": 22324,
        "preferredName": "NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7285",
        "RCV": [
          "RCV000145908",
          "RCV000007708",
          "RCV000544279",
          "RCV000754751",
          "RCV000656268",
          "RCV002504764"
        ],
        "variationId": 7285
      }
    ]
  },
  "type": "amino-acid"
}