{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827923106",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1307,
          "referenceAllele": "L",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001341630.1:p.Leu1307Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017626",
          "hgvs": "NM_001354701.2:c.3919C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA085417",
          "hgvs": "NM_001354701.2:c.[3919C>T;703+223G>A]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618094"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38448[alleleid]",
        "alleleId": 38448,
        "preferredName": "NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67836",
        "RCV": [
          "RCV000058614",
          "RCV000176338",
          "RCV000148841",
          "RCV000243761",
          "RCV000987205",
          "RCV001842355"
        ],
        "variationId": 67836
      }
    ]
  },
  "type": "amino-acid"
}