{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645453632",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1351,
          "referenceAllele": "T",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Thr1351Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8709062",
          "hgvs": "NM_000334.4:c.4052C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=346779[alleleid]",
        "alleleId": 346779,
        "preferredName": "NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/324520",
        "RCV": [
          "RCV000279601",
          "RCV000281184",
          "RCV000338105",
          "RCV000371720",
          "RCV000702745",
          "RCV000713105",
          "RCV002523000"
        ],
        "variationId": 324520
      }
    ]
  },
  "type": "amino-acid"
}