{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1304943724",
  "communityStandardTitle": [
    "NM_001365536.1(SCN9A):c.3926T= (p.Val1309=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908911",
        "rs": 121908911
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 166228971,
          "referenceAllele": "A",
          "start": 166228970
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166228971A=",
        "CM000664.2:g.166228971A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 167085481,
          "referenceAllele": "A",
          "start": 167085480
        }
      ],
      "hgvs": [
        "NC_000002.11:g.167085481A=",
        "CM000664.1:g.167085481A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 166793727,
          "referenceAllele": "A",
          "start": 166793726
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166793727A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152017,
          "referenceAllele": "T",
          "start": 152016
        }
      ],
      "hgvs": [
        "NG_012798.1:g.152017T=",
        "LRG_369:g.152017T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002537"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4174,
          "referenceAllele": "T",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000303354.11:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304748.7:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3926,
          "referenceAllele": "T",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409435.6:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386330.2:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4224,
          "referenceAllele": "T",
          "start": 4223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000642356.2:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495601.1:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642356.2:c.3926T="
          },
          "RefSeq": {
            "hgvs": "NM_001365536.1:c.3926T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495601.1:p.Val1309="
          },
          "RefSeq": {
            "hgvs": "NP_001352465.1:p.Val1309="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3770,
          "referenceAllele": "T",
          "start": 3769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000644316.1:c.3770T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493939.1:p.Val1257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4141,
          "referenceAllele": "T",
          "start": 4140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000645907.1:c.3893T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495983.1:p.Val1298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4267,
          "referenceAllele": "T",
          "start": 4266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000303354.10:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304748.7:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3926,
          "referenceAllele": "T",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409435.5:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386330.1:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4240,
          "referenceAllele": "T",
          "start": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409672.5:c.3893T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386306.1:p.Val1298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526613",
      "coordinates": [
        {
          "allele": "T",
          "end": 4234,
          "referenceAllele": "T",
          "start": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "NM_002977.3:c.3893T=",
        "LRG_369t1:c.3893T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002968.1:p.Val1298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 19223,
          "referenceAllele": "A",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 19224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054069",
      "geneNCBI_id": 101929680,
      "geneSymbol": "SCN1A-AS1",
      "hgvs": [
        "NR_110260.1:n.612-19224A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4240,
          "referenceAllele": "T",
          "start": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_005246757.1:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246814.1:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4188,
          "referenceAllele": "T",
          "start": 4187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511616.1:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509918.1:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4240,
          "referenceAllele": "T",
          "start": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511617.1:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509919.1:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4207,
          "referenceAllele": "T",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511618.1:c.3893T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509920.1:p.Val1298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4240,
          "referenceAllele": "T",
          "start": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511619.1:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509921.1:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4224,
          "referenceAllele": "T",
          "start": 4223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "NM_001365536.1:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352465.1:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642356.2:c.3926T="
          },
          "RefSeq": {
            "hgvs": "NM_001365536.1:c.3926T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495601.1:p.Val1309="
          },
          "RefSeq": {
            "hgvs": "NP_001352465.1:p.Val1309="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4202,
          "referenceAllele": "T",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511616.3:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509918.1:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4240,
          "referenceAllele": "T",
          "start": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511617.2:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509919.1:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4207,
          "referenceAllele": "T",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511618.2:c.3893T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509920.1:p.Val1298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4240,
          "referenceAllele": "T",
          "start": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511619.2:c.3926T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509921.1:p.Val1309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3769,
          "referenceAllele": "T",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_017004668.1:c.3539T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860157.1:p.Val1180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3327,
          "referenceAllele": "T",
          "start": 3326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_017004669.1:c.3182T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860158.1:p.Val1061="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560119"
    }
  ],
  "type": "nucleotide"
}