{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16604006",
  "communityStandardTitle": [
    "NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=366028[alleleid]",
        "alleleId": 366028,
        "preferredName": "NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379838",
        "RCV": [
          "RCV000420271",
          "RCV000625713",
          "RCV003992291"
        ],
        "variationId": 379838
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165954003G>A?assembly=hg19",
        "id": "chr2:g.165954003G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165097493G>A?assembly=hg38",
        "id": "chr2:g.165097493G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520753",
        "rs": 1057520753
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 165097493,
          "referenceAllele": "G",
          "start": 165097492
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165097493G>A",
        "CM000664.2:g.165097493G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 165954003,
          "referenceAllele": "G",
          "start": 165954002
        }
      ],
      "hgvs": [
        "NC_000002.11:g.165954003G>A",
        "CM000664.1:g.165954003G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 165662249,
          "referenceAllele": "G",
          "start": 165662248
        }
      ],
      "hgvs": [
        "NC_000002.10:g.165662249G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111596,
          "referenceAllele": "C",
          "start": 111595
        }
      ],
      "hgvs": [
        "NG_042289.1:g.111596C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005993"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4256,
          "referenceAllele": "C",
          "start": 4255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000706067.1:c.3947C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516211.1:p.Pro1316Leu",
        "hgvsWellDefined": "ENSP00000516211.1:p.Pro1316Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4473,
          "referenceAllele": "C",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000283254.12:c.3998C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283254.7:p.Pro1333Leu",
        "hgvsWellDefined": "ENSP00000283254.7:p.Pro1333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000283254.12:c.3998C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006922.4:c.3998C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000283254.7:p.Pro1333Leu"
          },
          "RefSeq": {
            "hgvs": "NP_008853.3:p.Pro1333Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4111,
          "referenceAllele": "C",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000638473.1:c.*1839C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491552.1:n.*1839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4253,
          "referenceAllele": "C",
          "start": 4252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000639244.1:c.3947C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492251.1:p.Pro1316Leu",
        "hgvsWellDefined": "ENSP00000492251.1:p.Pro1316Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4200,
          "referenceAllele": "C",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000640652.1:c.*732C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492807.1:n.*732C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2207,
          "referenceAllele": "C",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000658209.1:c.2207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499598.1:n.2207C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4466,
          "referenceAllele": "C",
          "start": 4465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000283254.11:c.3998C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283254.7:p.Pro1333Leu",
        "hgvsWellDefined": "ENSP00000283254.7:p.Pro1333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4490,
          "referenceAllele": "C",
          "start": 4489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000360093.7:c.3998C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353206.3:p.Pro1333Leu",
        "hgvsWellDefined": "ENSP00000353206.3:p.Pro1333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4162,
          "referenceAllele": "C",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000409101.7:c.3851C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386726.3:p.Pro1284Leu",
        "hgvsWellDefined": "ENSP00000386726.3:p.Pro1284Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3905,
          "referenceAllele": "C",
          "start": 3904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000440431.6:c.3851C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403348.1:p.Pro1284Leu",
        "hgvsWellDefined": "ENSP00000403348.1:p.Pro1284Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "ENST00000471697.1:n.122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825479682",
      "coordinates": [
        {
          "allele": "T",
          "end": 4343,
          "referenceAllele": "C",
          "start": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "NM_001081676.1:c.3851C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001075145.1:p.Pro1284Leu",
        "hgvsWellDefined": "NP_001075145.1:p.Pro1284Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825480913",
      "coordinates": [
        {
          "allele": "T",
          "end": 4343,
          "referenceAllele": "C",
          "start": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "NM_001081677.1:c.3851C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001075146.1:p.Pro1284Leu",
        "hgvsWellDefined": "NP_001075146.1:p.Pro1284Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458901",
      "coordinates": [
        {
          "allele": "T",
          "end": 4490,
          "referenceAllele": "C",
          "start": 4489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "NM_006922.3:c.3998C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008853.3:p.Pro1333Leu",
        "hgvsWellDefined": "NP_008853.3:p.Pro1333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4633,
          "referenceAllele": "C",
          "start": 4632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_006712679.1:c.3998C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712742.1:p.Pro1333Leu",
        "hgvsWellDefined": "XP_006712742.1:p.Pro1333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4613,
          "referenceAllele": "C",
          "start": 4612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_011511610.1:c.3998C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509912.1:p.Pro1333Leu",
        "hgvsWellDefined": "XP_011509912.1:p.Pro1333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4613,
          "referenceAllele": "C",
          "start": 4612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_011511611.1:c.3998C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509913.1:p.Pro1333Leu",
        "hgvsWellDefined": "XP_011509913.1:p.Pro1333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4562,
          "referenceAllele": "C",
          "start": 4561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_011511612.1:c.3947C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509914.1:p.Pro1316Leu",
        "hgvsWellDefined": "XP_011509914.1:p.Pro1316Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_011511613.1:c.2108C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509915.1:p.Pro703Leu",
        "hgvsWellDefined": "XP_011509915.1:p.Pro703Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4613,
          "referenceAllele": "C",
          "start": 4612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_011511610.3:c.3998C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509912.1:p.Pro1333Leu",
        "hgvsWellDefined": "XP_011509912.1:p.Pro1333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4584,
          "referenceAllele": "C",
          "start": 4583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_011511613.3:c.2108C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509915.1:p.Pro703Leu",
        "hgvsWellDefined": "XP_011509915.1:p.Pro703Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4473,
          "referenceAllele": "C",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_017004660.2:c.3998C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860149.1:p.Pro1333Leu",
        "hgvsWellDefined": "XP_016860149.1:p.Pro1333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4422,
          "referenceAllele": "C",
          "start": 4421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_017004661.2:c.3947C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860150.1:p.Pro1316Leu",
        "hgvsWellDefined": "XP_016860150.1:p.Pro1316Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4335,
          "referenceAllele": "C",
          "start": 4334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_017004662.2:c.3860C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860151.1:p.Pro1287Leu",
        "hgvsWellDefined": "XP_016860151.1:p.Pro1287Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4479,
          "referenceAllele": "C",
          "start": 4478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "XM_017004663.2:c.2108C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860152.1:p.Pro703Leu",
        "hgvsWellDefined": "XP_016860152.1:p.Pro703Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458901",
      "coordinates": [
        {
          "allele": "T",
          "end": 4473,
          "referenceAllele": "C",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "NM_006922.4:c.3998C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008853.3:p.Pro1333Leu",
        "hgvsWellDefined": "NP_008853.3:p.Pro1333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000283254.12:c.3998C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006922.4:c.3998C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000283254.7:p.Pro1333Leu"
          },
          "RefSeq": {
            "hgvs": "NP_008853.3:p.Pro1333Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825479682",
      "coordinates": [
        {
          "allele": "T",
          "end": 4326,
          "referenceAllele": "C",
          "start": 4325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "NM_001081676.2:c.3851C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001075145.1:p.Pro1284Leu",
        "hgvsWellDefined": "NP_001075145.1:p.Pro1284Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676327"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825480913",
      "coordinates": [
        {
          "allele": "T",
          "end": 4326,
          "referenceAllele": "C",
          "start": 4325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "NM_001081677.2:c.3851C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001075146.1:p.Pro1284Leu",
        "hgvsWellDefined": "NP_001075146.1:p.Pro1284Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676328"
    }
  ],
  "type": "nucleotide"
}