{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093399",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1158,
          "referenceAllele": "P",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Pro1158Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253655",
          "hgvs": "NM_000334.4:c.3472C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20956[alleleid]",
        "alleleId": 20956,
        "preferredName": "NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5917",
        "RCV": [
          "RCV000006280",
          "RCV000713100",
          "RCV001210018",
          "RCV002512825"
        ],
        "variationId": 5917
      }
    ]
  },
  "type": "amino-acid"
}