{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825945630",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1765,
          "referenceAllele": "D",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001153633.1:p.Asp1765Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA019238",
          "hgvs": "NM_001160161.2:c.5293G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA913188086",
          "hgvs": "NM_001160161.2:c.5293_5295delinsAAC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154603"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24441[alleleid]",
        "alleleId": 24441,
        "preferredName": "NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=909408[alleleid]",
        "alleleId": 909408,
        "preferredName": "NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9402",
        "RCV": [
          "RCV000010005",
          "RCV000058782",
          "RCV000171695",
          "RCV000183199",
          "RCV000987198",
          "RCV001507624",
          "RCV002345238",
          "RCV001841243"
        ],
        "variationId": 9402
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/920535",
        "RCV": [
          "RCV001842769",
          "RCV002491518",
          "RCV003163406"
        ],
        "variationId": 920535
      }
    ]
  },
  "type": "amino-acid"
}