{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825945852",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1897,
          "referenceAllele": "V",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001153633.1:p.Val1897Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA019509",
          "hgvs": "NM_001160161.2:c.5689G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA352139705",
          "hgvs": "NM_001160161.2:c.5689G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154603"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45426[alleleid]",
        "alleleId": 45426,
        "preferredName": "NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36765",
        "RCV": [
          "RCV000030444",
          "RCV000041632",
          "RCV000058811",
          "RCV000171770",
          "RCV000148837",
          "RCV000157493",
          "RCV000245882",
          "RCV000852961",
          "RCV001148561",
          "RCV001145802",
          "RCV001148560",
          "RCV001148562",
          "RCV001148563",
          "RCV001148564",
          "RCV001841551",
          "RCV003149588"
        ],
        "variationId": 36765
      }
    ]
  },
  "type": "amino-acid"
}