{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916029159",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 919,
          "referenceAllele": "L",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NP_001334631.1:p.Leu919Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA155452",
          "hgvs": "NM_001347702.2:c.2755C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624740"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=135882[alleleid]",
        "alleleId": 135882,
        "preferredName": "NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/130436",
        "RCV": [
          "RCV000118476",
          "RCV000325739",
          "RCV000993177",
          "RCV001517589",
          "RCV000384879"
        ],
        "variationId": 130436
      }
    ]
  },
  "type": "amino-acid"
}