{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2005866107",
  "communityStandardTitle": [
    "NM_001040151.2(SCN3B):c.482T= (p.Met161=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777557",
        "rs": 587777557
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 123638288,
          "referenceAllele": "A",
          "start": 123638287
        }
      ],
      "hgvs": [
        "NC_000011.10:g.123638288A=",
        "CM000673.2:g.123638288A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 123508996,
          "referenceAllele": "A",
          "start": 123508995
        }
      ],
      "hgvs": [
        "NC_000011.9:g.123508996A=",
        "CM000673.1:g.123508996A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 123014206,
          "referenceAllele": "A",
          "start": 123014205
        }
      ],
      "hgvs": [
        "NC_000011.8:g.123014206A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21320,
          "referenceAllele": "T",
          "start": 21319
        }
      ],
      "hgvs": [
        "NG_016283.1:g.21320T=",
        "LRG_421:g.21320T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003074"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "T",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "ENST00000299333.8:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299333.3:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299333.8:c.482T="
          },
          "RefSeq": {
            "hgvs": "NM_001040151.2:c.482T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299333.3:p.Met161="
          },
          "RefSeq": {
            "hgvs": "NP_001035241.1:p.Met161="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "T",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "ENST00000655686.1:n.325T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "T",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "ENST00000657123.1:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499439.1:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "T",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "ENST00000657191.1:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499755.1:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "referenceAllele": "T",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "ENST00000659826.1:c.231T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "referenceAllele": "T",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "ENST00000667790.1:c.*463T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499234.1:n.*463T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "T",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "ENST00000299333.7:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299333.3:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "referenceAllele": "T",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "ENST00000392770.6:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376523.2:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2837,
          "referenceAllele": "T",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "ENST00000527125.1:n.2837T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "T",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "ENST00000530277.5:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432785.1:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "T",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "NM_001040151.1:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035241.1:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009525"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077898794",
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "T",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "NM_018400.3:c.482T=",
        "LRG_421t1:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "NP_060870.1:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "T",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "XM_011542897.1:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541199.1:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "T",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "XR_947858.1:n.889T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "referenceAllele": "T",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "XM_011542897.2:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541199.1:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "T",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "NM_001040151.2:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035241.1:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711633",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299333.8:c.482T="
          },
          "RefSeq": {
            "hgvs": "NM_001040151.2:c.482T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299333.3:p.Met161="
          },
          "RefSeq": {
            "hgvs": "NP_001035241.1:p.Met161="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077898794",
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "T",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "NM_018400.4:c.482T="
      ],
      "proteinEffect": {
        "hgvs": "NP_060870.1:p.Met161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728328"
    }
  ],
  "type": "nucleotide"
}