{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA017287",
  "communityStandardTitle": [
    "NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24431[alleleid]",
        "alleleId": 24431,
        "preferredName": "NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9392",
        "RCV": [
          "RCV000009991",
          "RCV000009990",
          "RCV000058578",
          "RCV000157488",
          "RCV000154828",
          "RCV000171819",
          "RCV000252422",
          "RCV000755697",
          "RCV001147626",
          "RCV001147627",
          "RCV001147625",
          "RCV001147624",
          "RCV001841238",
          "RCV002476954",
          "RCV003149566"
        ],
        "variationId": 9392
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-38616876-C-T",
        "id": "3-38616876-C-T",
        "variant": "3:38616876 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.38616876C>T?assembly=hg19",
        "id": "chr3:g.38616876C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.38575385C>T?assembly=hg38",
        "id": "chr3:g.38575385C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41261344",
        "rs": 41261344
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-38616876-C-T?dataset=gnomad_r2_1",
        "id": "3-38616876-C-T",
        "variant": "3:38616876 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-38575385-C-T?dataset=gnomad_r3",
        "id": "3-38575385-C-T",
        "variant": "3:38575385 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-38575385-C-T?dataset=gnomad_r4",
        "id": "3-38575385-C-T",
        "variant": "3:38575385 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 38575385,
          "referenceAllele": "C",
          "start": 38575384
        }
      ],
      "hgvs": [
        "NC_000003.12:g.38575385C>T",
        "CM000665.2:g.38575385C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 38616876,
          "referenceAllele": "C",
          "start": 38616875
        }
      ],
      "hgvs": [
        "NC_000003.11:g.38616876C>T",
        "CM000665.1:g.38616876C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 38591880,
          "referenceAllele": "C",
          "start": 38591879
        }
      ],
      "hgvs": [
        "NC_000003.10:g.38591880C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79288,
          "referenceAllele": "G",
          "start": 79287
        }
      ],
      "hgvs": [
        "NG_008934.1:g.79288G>A",
        "LRG_289:g.79288G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001312"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3713,
          "referenceAllele": "G",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000327956.7:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333674.7:p.Arg1192Gln",
        "hgvsWellDefined": "ENSP00000333674.7:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3787,
          "referenceAllele": "G",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000333535.9:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328968.4:p.Arg1193Gln",
        "hgvsWellDefined": "ENSP00000328968.4:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3787,
          "referenceAllele": "G",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000413689.6:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410257.1:p.Arg1193Gln",
        "hgvsWellDefined": "ENSP00000410257.1:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000413689.6:c.3578G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001099404.2:c.3578G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410257.1:p.Arg1193Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001092874.1:p.Arg1193Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3784,
          "referenceAllele": "G",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000423572.7:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398266.2:p.Arg1192Gln",
        "hgvsWellDefined": "ENSP00000398266.2:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423572.7:c.3575G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000335.5:c.3575G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398266.2:p.Arg1192Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000326.2:p.Arg1192Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3728,
          "referenceAllele": "G",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000333535.8:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328968.4:p.Arg1193Gln",
        "hgvsWellDefined": "ENSP00000328968.4:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3772,
          "referenceAllele": "G",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000413689.5:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410257.1:p.Arg1193Gln",
        "hgvsWellDefined": "ENSP00000410257.1:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3620,
          "referenceAllele": "G",
          "start": 3619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000414099.6:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398962.2:p.Arg1193Gln",
        "hgvsWellDefined": "ENSP00000398962.2:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3630,
          "referenceAllele": "G",
          "start": 3629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000423572.6:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398266.2:p.Arg1192Gln",
        "hgvsWellDefined": "ENSP00000398266.2:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3772,
          "referenceAllele": "G",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000425664.5:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416634.1:p.Arg1193Gln",
        "hgvsWellDefined": "ENSP00000416634.1:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3425,
          "referenceAllele": "G",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000449557.6:c.3416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413996.2:p.Arg1139Gln",
        "hgvsWellDefined": "ENSP00000413996.2:p.Arg1139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3458,
          "referenceAllele": "G",
          "start": 3457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000450102.6:c.3416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403355.2:p.Arg1139Gln",
        "hgvsWellDefined": "ENSP00000403355.2:p.Arg1139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3611,
          "referenceAllele": "G",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000451551.6:c.3416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388797.2:p.Arg1139Gln",
        "hgvsWellDefined": "ENSP00000388797.2:p.Arg1139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3600,
          "referenceAllele": "G",
          "start": 3599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000455624.6:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399524.2:p.Arg1192Gln",
        "hgvsWellDefined": "ENSP00000399524.2:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120349",
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_000335.4:c.3575G>A",
        "LRG_289t2:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000326.2:p.Arg1192Gln",
        "hgvsWellDefined": "NP_000326.2:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120350",
      "coordinates": [
        {
          "allele": "A",
          "end": 3772,
          "referenceAllele": "G",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099404.1:c.3578G>A",
        "LRG_289t3:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092874.1:p.Arg1193Gln",
        "hgvsWellDefined": "NP_001092874.1:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825495435",
      "coordinates": [
        {
          "allele": "A",
          "end": 3772,
          "referenceAllele": "G",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099405.1:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092875.1:p.Arg1193Gln",
        "hgvsWellDefined": "NP_001092875.1:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825941691",
      "coordinates": [
        {
          "allele": "A",
          "end": 3770,
          "referenceAllele": "G",
          "start": 3769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160160.1:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153632.1:p.Arg1192Gln",
        "hgvsWellDefined": "NP_001153632.1:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825944653",
      "coordinates": [
        {
          "allele": "A",
          "end": 3611,
          "referenceAllele": "G",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160161.1:c.3416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153633.1:p.Arg1139Gln",
        "hgvsWellDefined": "NP_001153633.1:p.Arg1139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014137"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107318",
      "coordinates": [
        {
          "allele": "A",
          "end": 3772,
          "referenceAllele": "G",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_198056.2:c.3578G>A",
        "LRG_289t1:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_932173.1:p.Arg1193Gln",
        "hgvsWellDefined": "NP_932173.1:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3710,
          "referenceAllele": "G",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_006713282.2:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713345.1:p.Arg1193Gln",
        "hgvsWellDefined": "XP_006713345.1:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3764,
          "referenceAllele": "G",
          "start": 3763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_011533991.1:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532293.1:p.Arg1192Gln",
        "hgvsWellDefined": "XP_011532293.1:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3556,
          "referenceAllele": "G",
          "start": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_011533992.1:c.3449G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532294.1:p.Arg1150Gln",
        "hgvsWellDefined": "XP_011532294.1:p.Arg1150Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827922933",
      "coordinates": [
        {
          "allele": "A",
          "end": 3770,
          "referenceAllele": "G",
          "start": 3769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001354701.1:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341630.1:p.Arg1192Gln",
        "hgvsWellDefined": "NP_001341630.1:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3764,
          "referenceAllele": "G",
          "start": 3763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_011533991.2:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532293.1:p.Arg1192Gln",
        "hgvsWellDefined": "XP_011532293.1:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3605,
          "referenceAllele": "G",
          "start": 3604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_017007017.1:c.3416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862506.1:p.Arg1139Gln",
        "hgvsWellDefined": "XP_016862506.1:p.Arg1139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120349",
      "coordinates": [
        {
          "allele": "A",
          "end": 3784,
          "referenceAllele": "G",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_000335.5:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000326.2:p.Arg1192Gln",
        "hgvsWellDefined": "NP_000326.2:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423572.7:c.3575G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000335.5:c.3575G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398266.2:p.Arg1192Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000326.2:p.Arg1192Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825941691",
      "coordinates": [
        {
          "allele": "A",
          "end": 3784,
          "referenceAllele": "G",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160160.2:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153632.1:p.Arg1192Gln",
        "hgvsWellDefined": "NP_001153632.1:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827922933",
      "coordinates": [
        {
          "allele": "A",
          "end": 3784,
          "referenceAllele": "G",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001354701.2:c.3575G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341630.1:p.Arg1192Gln",
        "hgvsWellDefined": "NP_001341630.1:p.Arg1192Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690293"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120350",
      "coordinates": [
        {
          "allele": "A",
          "end": 3787,
          "referenceAllele": "G",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099404.2:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092874.1:p.Arg1193Gln",
        "hgvsWellDefined": "NP_001092874.1:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711956",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000413689.6:c.3578G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001099404.2:c.3578G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410257.1:p.Arg1193Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001092874.1:p.Arg1193Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825495435",
      "coordinates": [
        {
          "allele": "A",
          "end": 3787,
          "referenceAllele": "G",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099405.2:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092875.1:p.Arg1193Gln",
        "hgvsWellDefined": "NP_001092875.1:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825944653",
      "coordinates": [
        {
          "allele": "A",
          "end": 3625,
          "referenceAllele": "G",
          "start": 3624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160161.2:c.3416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153633.1:p.Arg1139Gln",
        "hgvsWellDefined": "NP_001153633.1:p.Arg1139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107318",
      "coordinates": [
        {
          "allele": "A",
          "end": 3787,
          "referenceAllele": "G",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_198056.3:c.3578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_932173.1:p.Arg1193Gln",
        "hgvsWellDefined": "NP_932173.1:p.Arg1193Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729873"
    }
  ],
  "type": "nucleotide"
}