{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA913188086",
  "communityStandardTitle": [
    "NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@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/920535",
        "RCV": [
          "RCV001842769",
          "RCV002491518",
          "RCV003163406"
        ],
        "variationId": 920535
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2061022221",
        "rs": 2061022221
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "GTT",
          "end": 38550917,
          "referenceAllele": "ATC",
          "start": 38550914
        }
      ],
      "hgvs": [
        "NC_000003.12:g.38550915_38550917delinsGTT",
        "CM000665.2:g.38550915_38550917delinsGTT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "GTT",
          "end": 38592408,
          "referenceAllele": "ATC",
          "start": 38592405
        }
      ],
      "hgvs": [
        "NC_000003.11:g.38592406_38592408delinsGTT",
        "CM000665.1:g.38592406_38592408delinsGTT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "GTT",
          "end": 38567412,
          "referenceAllele": "ATC",
          "start": 38567409
        }
      ],
      "hgvs": [
        "NC_000003.10:g.38567410_38567412delinsGTT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 103758,
          "referenceAllele": "GAT",
          "start": 103755
        }
      ],
      "hgvs": [
        "NG_008934.1:g.103756_103758delinsAAC",
        "LRG_289:g.103756_103758delinsAAC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001312"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5592,
          "referenceAllele": "GAT",
          "start": 5589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000327956.7:c.5452_5454delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333674.7:p.Asp1818Asn",
        "hgvsWellDefined": "ENSP00000333674.7:p.Asp1818Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913961"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5666,
          "referenceAllele": "GAT",
          "start": 5663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000333535.9:c.5455_5457delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328968.4:p.Asp1819Asn",
        "hgvsWellDefined": "ENSP00000328968.4:p.Asp1819Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747320"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5666,
          "referenceAllele": "GAT",
          "start": 5663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000413689.6:c.5455_5457delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410257.1:p.Asp1819Asn",
        "hgvsWellDefined": "ENSP00000410257.1:p.Asp1819Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000413689.6:c.5455_5457delinsAAC"
          },
          "RefSeq": {
            "hgvs": "NM_001099404.2:c.5455_5457delinsAAC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410257.1:p.Asp1819Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001092874.1:p.Asp1819Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5663,
          "referenceAllele": "GAT",
          "start": 5660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000423572.7:c.5452_5454delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398266.2:p.Asp1818Asn",
        "hgvsWellDefined": "ENSP00000398266.2:p.Asp1818Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423572.7:c.5452_5454delinsAAC"
          },
          "RefSeq": {
            "hgvs": "NM_000335.5:c.5452_5454delinsAAC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398266.2:p.Asp1818Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000326.2:p.Asp1818Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5607,
          "referenceAllele": "GAT",
          "start": 5604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000333535.8:c.5455_5457delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328968.4:p.Asp1819Asn",
        "hgvsWellDefined": "ENSP00000328968.4:p.Asp1819Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247329"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5651,
          "referenceAllele": "GAT",
          "start": 5648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000413689.5:c.5455_5457delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410257.1:p.Asp1819Asn",
        "hgvsWellDefined": "ENSP00000410257.1:p.Asp1819Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247165"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5445,
          "referenceAllele": "GAT",
          "start": 5442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000414099.6:c.5401_5403delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398962.2:p.Asp1801Asn",
        "hgvsWellDefined": "ENSP00000398962.2:p.Asp1801Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247373"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5509,
          "referenceAllele": "GAT",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000423572.6:c.5452_5454delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398266.2:p.Asp1818Asn",
        "hgvsWellDefined": "ENSP00000398266.2:p.Asp1818Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247184"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5597,
          "referenceAllele": "GAT",
          "start": 5594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000425664.5:c.5401_5403delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416634.1:p.Asp1801Asn",
        "hgvsWellDefined": "ENSP00000416634.1:p.Asp1801Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246629"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5304,
          "referenceAllele": "GAT",
          "start": 5301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000449557.6:c.5293_5295delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413996.2:p.Asp1765Asn",
        "hgvsWellDefined": "ENSP00000413996.2:p.Asp1765Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247361"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5337,
          "referenceAllele": "GAT",
          "start": 5334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000450102.6:c.5293_5295delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403355.2:p.Asp1765Asn",
        "hgvsWellDefined": "ENSP00000403355.2:p.Asp1765Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247217"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5490,
          "referenceAllele": "GAT",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000451551.6:c.5293_5295delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388797.2:p.Asp1765Asn",
        "hgvsWellDefined": "ENSP00000388797.2:p.Asp1765Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247201"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5383,
          "referenceAllele": "GAT",
          "start": 5380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000455624.6:c.5356_5358delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399524.2:p.Asp1786Asn",
        "hgvsWellDefined": "ENSP00000399524.2:p.Asp1786Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120373",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5648,
          "referenceAllele": "GAT",
          "start": 5645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_000335.4:c.5452_5454delinsAAC",
        "LRG_289t2:c.5452_5454delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000326.2:p.Asp1818Asn",
        "hgvsWellDefined": "NP_000326.2:p.Asp1818Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120374",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5651,
          "referenceAllele": "GAT",
          "start": 5648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099404.1:c.5455_5457delinsAAC",
        "LRG_289t3:c.5455_5457delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092874.1:p.Asp1819Asn",
        "hgvsWellDefined": "NP_001092874.1:p.Asp1819Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497155",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5597,
          "referenceAllele": "GAT",
          "start": 5594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099405.1:c.5401_5403delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092875.1:p.Asp1801Asn",
        "hgvsWellDefined": "NP_001092875.1:p.Asp1801Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825942616",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5553,
          "referenceAllele": "GAT",
          "start": 5550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160160.1:c.5356_5358delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153632.1:p.Asp1786Asn",
        "hgvsWellDefined": "NP_001153632.1:p.Asp1786Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825945630",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5490,
          "referenceAllele": "GAT",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160161.1:c.5293_5295delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153633.1:p.Asp1765Asn",
        "hgvsWellDefined": "NP_001153633.1:p.Asp1765Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014137"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107683",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5651,
          "referenceAllele": "GAT",
          "start": 5648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_198056.2:c.5455_5457delinsAAC",
        "LRG_289t1:c.5455_5457delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_932173.1:p.Asp1819Asn",
        "hgvsWellDefined": "NP_932173.1:p.Asp1819Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044407"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5589,
          "referenceAllele": "GAT",
          "start": 5586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_006713282.2:c.5455_5457delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713345.1:p.Asp1819Asn",
        "hgvsWellDefined": "XP_006713345.1:p.Asp1819Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070082"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5643,
          "referenceAllele": "GAT",
          "start": 5640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_011533991.1:c.5452_5454delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532293.1:p.Asp1818Asn",
        "hgvsWellDefined": "XP_011532293.1:p.Asp1818Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101009"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5435,
          "referenceAllele": "GAT",
          "start": 5432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_011533992.1:c.5326_5328delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532294.1:p.Asp1776Asn",
        "hgvsWellDefined": "XP_011532294.1:p.Asp1776Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827923877",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5595,
          "referenceAllele": "GAT",
          "start": 5592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001354701.1:c.5398_5400delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341630.1:p.Asp1800Asn",
        "hgvsWellDefined": "NP_001341630.1:p.Asp1800Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522627"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5643,
          "referenceAllele": "GAT",
          "start": 5640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_011533991.2:c.5452_5454delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532293.1:p.Asp1818Asn",
        "hgvsWellDefined": "XP_011532293.1:p.Asp1818Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551456"
    },
    {
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5484,
          "referenceAllele": "GAT",
          "start": 5481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_017007017.1:c.5293_5295delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862506.1:p.Asp1765Asn",
        "hgvsWellDefined": "XP_016862506.1:p.Asp1765Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120373",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5663,
          "referenceAllele": "GAT",
          "start": 5660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_000335.5:c.5452_5454delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000326.2:p.Asp1818Asn",
        "hgvsWellDefined": "NP_000326.2:p.Asp1818Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423572.7:c.5452_5454delinsAAC"
          },
          "RefSeq": {
            "hgvs": "NM_000335.5:c.5452_5454delinsAAC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398266.2:p.Asp1818Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000326.2:p.Asp1818Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825942616",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5567,
          "referenceAllele": "GAT",
          "start": 5564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160160.2:c.5356_5358delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153632.1:p.Asp1786Asn",
        "hgvsWellDefined": "NP_001153632.1:p.Asp1786Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827923877",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5609,
          "referenceAllele": "GAT",
          "start": 5606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001354701.2:c.5398_5400delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341630.1:p.Asp1800Asn",
        "hgvsWellDefined": "NP_001341630.1:p.Asp1800Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690293"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120374",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5666,
          "referenceAllele": "GAT",
          "start": 5663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099404.2:c.5455_5457delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092874.1:p.Asp1819Asn",
        "hgvsWellDefined": "NP_001092874.1:p.Asp1819Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711956",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000413689.6:c.5455_5457delinsAAC"
          },
          "RefSeq": {
            "hgvs": "NM_001099404.2:c.5455_5457delinsAAC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410257.1:p.Asp1819Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001092874.1:p.Asp1819Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497155",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5612,
          "referenceAllele": "GAT",
          "start": 5609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099405.2:c.5401_5403delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092875.1:p.Asp1801Asn",
        "hgvsWellDefined": "NP_001092875.1:p.Asp1801Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825945630",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5504,
          "referenceAllele": "GAT",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160161.2:c.5293_5295delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153633.1:p.Asp1765Asn",
        "hgvsWellDefined": "NP_001153633.1:p.Asp1765Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107683",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 5666,
          "referenceAllele": "GAT",
          "start": 5663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_198056.3:c.5455_5457delinsAAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_932173.1:p.Asp1819Asn",
        "hgvsWellDefined": "NP_932173.1:p.Asp1819Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729873"
    }
  ],
  "type": "nucleotide"
}