{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA385227994",
  "communityStandardTitle": [
    "NM_001330260.2(SCN8A):c.1229T>C (p.Val410Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1474029[alleleid]",
        "alleleId": 1474029,
        "preferredName": "NM_001330260.2(SCN8A):c.1229T>C (p.Val410Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1387304",
        "RCV": [
          "RCV001906011"
        ],
        "variationId": 1387304
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52099295T>C?assembly=hg19",
        "id": "chr12:g.52099295T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.51705511T>C?assembly=hg38",
        "id": "chr12:g.51705511T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2138748264",
        "rs": 2138748264
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 51705511,
          "referenceAllele": "T",
          "start": 51705510
        }
      ],
      "hgvs": [
        "NC_000012.12:g.51705511T>C",
        "CM000674.2:g.51705511T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 52099295,
          "referenceAllele": "T",
          "start": 52099294
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52099295T>C",
        "CM000674.1:g.52099295T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 50385562,
          "referenceAllele": "T",
          "start": 50385561
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50385562T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119276,
          "referenceAllele": "T",
          "start": 119275
        }
      ],
      "hgvs": [
        "NG_021180.2:g.119276T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120554,
          "referenceAllele": "T",
          "start": 120553
        }
      ],
      "hgvs": [
        "NG_021180.3:g.120554T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706127"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "T",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000354534.11:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346534.4:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000346534.4:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354534.11:c.1229T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014191.4:c.1229T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346534.4:p.Val410Ala"
          },
          "RefSeq": {
            "hgvs": "NP_055006.1:p.Val410Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "T",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000627620.5:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487583.2:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000487583.2:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762495",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000627620.5:c.1229T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001330260.2:c.1229T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487583.2:p.Val410Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001317189.1:p.Val410Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1358,
          "referenceAllele": "T",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000638820.1:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492157.1:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000492157.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "T",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000662684.1:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499636.1:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000499636.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1404,
          "referenceAllele": "T",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000667214.1:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499724.1:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000499724.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "T",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000668547.1:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499691.1:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000499691.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000354534.10:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346534.4:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000346534.4:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000355133.7:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347255.4:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000347255.4:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000545061.5:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440360.1:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000440360.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1357,
          "referenceAllele": "T",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000550891.4:n.1357T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000551216.2:c.779T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447567.2:p.Val260Ala",
        "hgvsWellDefined": "ENSP00000447567.2:p.Val260Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000599343.5:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476447.3:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000476447.3:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000627620.2:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487583.1:p.Val410Ala",
        "hgvsWellDefined": "ENSP00000487583.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406922"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826129638",
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001177984.2:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171455.1:p.Val410Ala",
        "hgvsWellDefined": "NP_001171455.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573255743",
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_014191.3:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055006.1:p.Val410Ala",
        "hgvsWellDefined": "NP_055006.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "T",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_006719556.2:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719619.1:p.Val410Ala",
        "hgvsWellDefined": "XP_006719619.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073200"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "referenceAllele": "T",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_011538650.1:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536952.1:p.Val410Ala",
        "hgvsWellDefined": "XP_011536952.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1302,
          "referenceAllele": "T",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_011538651.1:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536953.1:p.Val410Ala",
        "hgvsWellDefined": "XP_011536953.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827291060",
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001330260.1:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317189.1:p.Val410Ala",
        "hgvsWellDefined": "NP_001317189.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1999,
          "referenceAllele": "T",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_006719556.4:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719619.1:p.Val410Ala",
        "hgvsWellDefined": "XP_006719619.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1391,
          "referenceAllele": "T",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_011538651.3:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536953.1:p.Val410Ala",
        "hgvsWellDefined": "XP_011536953.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1404,
          "referenceAllele": "T",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_017019794.2:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875283.1:p.Val410Ala",
        "hgvsWellDefined": "XP_016875283.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1423,
          "referenceAllele": "T",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_017019795.2:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875284.1:p.Val410Ala",
        "hgvsWellDefined": "XP_016875284.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571387"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1423,
          "referenceAllele": "T",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_017019796.1:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875285.1:p.Val410Ala",
        "hgvsWellDefined": "XP_016875285.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827291060",
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "T",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001330260.2:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317189.1:p.Val410Ala",
        "hgvsWellDefined": "NP_001317189.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000627620.5:c.1229T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001330260.2:c.1229T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487583.2:p.Val410Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001317189.1:p.Val410Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828360431",
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "T",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001369788.1:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356717.1:p.Val410Ala",
        "hgvsWellDefined": "NP_001356717.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573255743",
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "T",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_014191.4:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055006.1:p.Val410Ala",
        "hgvsWellDefined": "NP_055006.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697198",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354534.11:c.1229T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014191.4:c.1229T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346534.4:p.Val410Ala"
          },
          "RefSeq": {
            "hgvs": "NP_055006.1:p.Val410Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826129638",
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "T",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001177984.3:c.1229T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171455.1:p.Val410Ala",
        "hgvsWellDefined": "NP_001171455.1:p.Val410Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713539"
    }
  ],
  "type": "nucleotide"
}