{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827923557",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1601,
          "referenceAllele": "T",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001341630.1:p.Thr1601Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018653",
          "hgvs": "NM_001354701.2:c.4802C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA085295",
          "hgvs": "NM_001354701.2:c.[4802C>T;3691C>T]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618094"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38446[alleleid]",
        "alleleId": 38446,
        "preferredName": "NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67932",
        "RCV": [
          "RCV000058715",
          "RCV000144031",
          "RCV001842371",
          "RCV001836727",
          "RCV002477202"
        ],
        "variationId": 67932
      }
    ]
  },
  "type": "amino-acid"
}