{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2333469644",
  "communityStandardTitle": [
    "NM_001037.5(SCN1B):c.457G= (p.Asp153=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72550247",
        "rs": 72550247
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 35039125,
          "referenceAllele": "G",
          "start": 35039124
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35039125G=",
        "CM000681.2:g.35039125G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 35530029,
          "referenceAllele": "G",
          "start": 35530028
        }
      ],
      "hgvs": [
        "NC_000019.9:g.35530029G=",
        "CM000681.1:g.35530029G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 40221869,
          "referenceAllele": "G",
          "start": 40221868
        }
      ],
      "hgvs": [
        "NC_000019.8:g.40221869G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13438,
          "referenceAllele": "G",
          "start": 13437
        }
      ],
      "hgvs": [
        "NG_013359.1:g.13438G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002811"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000262631.11:c.457G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262631.3:p.Asp153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262631.11:c.457G="
          },
          "RefSeq": {
            "hgvs": "NM_001037.5:c.457G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262631.3:p.Asp153="
          },
          "RefSeq": {
            "hgvs": "NP_001028.1:p.Asp153="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000596348.2:c.358G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492247.1:p.Asp120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2227,
          "referenceAllele": "G",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000602150.2:n.2227G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000638536.1:c.457G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492022.1:p.Asp153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000639260.1:n.1270G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000675741.1:c.484G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502395.1:p.Asp162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000676410.1:c.*175G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502717.1:n.*175G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000262631.9:c.457G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262631.3:p.Asp153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 332,
          "referenceAllele": "G",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000595652.5:c.244G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468848.1:p.Asp82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000596348.1:n.466G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2227,
          "referenceAllele": "G",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000602150.1:n.2227G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085863745",
      "coordinates": [
        {
          "allele": "G",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001037.4:c.457G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001028.1:p.Asp153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "XM_005259144.1:c.358G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259201.1:p.Asp120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249481690",
      "coordinates": [
        {
          "allele": "G",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001321605.1:c.358G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308534.1:p.Asp120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085863745",
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001037.5:c.457G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001028.1:p.Asp153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663081",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262631.11:c.457G="
          },
          "RefSeq": {
            "hgvs": "NM_001037.5:c.457G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262631.3:p.Asp153="
          },
          "RefSeq": {
            "hgvs": "NP_001028.1:p.Asp153="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249481690",
      "coordinates": [
        {
          "allele": "G",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001321605.2:c.358G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308534.1:p.Asp120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685412"
    }
  ],
  "type": "nucleotide"
}