{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2333467034",
  "communityStandardTitle": [
    "NM_001037.5(SCN1B):c.363C= (p.Cys121=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894718",
        "rs": 104894718
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 35033654,
          "referenceAllele": "C",
          "start": 35033653
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35033654C=",
        "CM000681.2:g.35033654C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 35524558,
          "referenceAllele": "C",
          "start": 35524557
        }
      ],
      "hgvs": [
        "NC_000019.9:g.35524558C=",
        "CM000681.1:g.35524558C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 40216398,
          "referenceAllele": "C",
          "start": 40216397
        }
      ],
      "hgvs": [
        "NC_000019.8:g.40216398C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7967,
          "referenceAllele": "C",
          "start": 7966
        }
      ],
      "hgvs": [
        "NG_013359.1:g.7967C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002811"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000415950.5:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396915.2:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000262631.11:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262631.3:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262631.11:c.363C="
          },
          "RefSeq": {
            "hgvs": "NM_001037.5:c.363C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262631.3:p.Cys121="
          },
          "RefSeq": {
            "hgvs": "NP_001028.1:p.Cys121="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000415950.4:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396915.2:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000596348.2:c.264C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492247.1:p.Cys88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000638536.1:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492022.1:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000640135.1:c.264C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492655.1:p.Cys88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000675741.1:c.264C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502395.1:p.Cys88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000676410.1:c.264C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502717.1:p.Cys88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000262631.9:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262631.3:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "C",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000415950.3:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396915.2:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "endIntronDirection": "-",
          "endIntronOffset": 57,
          "referenceAllele": "C",
          "start": 295,
          "startIntronDirection": "-",
          "startIntronOffset": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000595652.5:c.208-58C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468848.1:n.208-58C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000596348.1:n.372C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001037.4:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001028.1:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868876",
      "coordinates": [
        {
          "allele": "C",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_199037.3:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "NP_950238.1:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "XM_005259144.1:c.264C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259201.1:p.Cys88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 736,
          "referenceAllele": "C",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001321605.1:c.264C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308534.1:p.Cys88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868876",
      "coordinates": [
        {
          "allele": "C",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_199037.4:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "NP_950238.1:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001037.5:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001028.1:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663081",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262631.11:c.363C="
          },
          "RefSeq": {
            "hgvs": "NM_001037.5:c.363C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262631.3:p.Cys121="
          },
          "RefSeq": {
            "hgvs": "NP_001028.1:p.Cys121="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 833,
          "referenceAllele": "C",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001321605.2:c.264C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308534.1:p.Cys88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868876",
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_199037.5:c.363C="
      ],
      "proteinEffect": {
        "hgvs": "NP_950238.1:p.Cys121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701444"
    }
  ],
  "type": "nucleotide"
}