{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11757316",
  "communityStandardTitle": [
    "NM_003998.4(NFKB1):c.2750-149C>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN15314949"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1214598[alleleid]",
        "alleleId": 1214598,
        "preferredName": "NM_003998.4(NFKB1):c.2750-149C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1225916",
        "RCV": [
          "RCV001613591",
          "RCV003394161"
        ],
        "variationId": 1225916
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.103537442C>T?assembly=hg19",
        "id": "chr4:g.103537442C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.102616285C>T?assembly=hg38",
        "id": "chr4:g.102616285C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1609798",
        "rs": 1609798
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-103537442-C-T?dataset=gnomad_r2_1",
        "id": "4-103537442-C-T",
        "variant": "4:103537442 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-102616285-C-T?dataset=gnomad_r3",
        "id": "4-102616285-C-T",
        "variant": "4:102616285 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-102616285-C-T?dataset=gnomad_r4",
        "id": "4-102616285-C-T",
        "variant": "4:102616285 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 102616285,
          "referenceAllele": "C",
          "start": 102616284
        }
      ],
      "hgvs": [
        "NC_000004.12:g.102616285C>T",
        "CM000666.2:g.102616285C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 103537442,
          "referenceAllele": "C",
          "start": 103537441
        }
      ],
      "hgvs": [
        "NC_000004.11:g.103537442C>T",
        "CM000666.1:g.103537442C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 103756488,
          "referenceAllele": "C",
          "start": 103756487
        }
      ],
      "hgvs": [
        "NC_000004.10:g.103756488C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119957,
          "referenceAllele": "C",
          "start": 119956
        }
      ],
      "hgvs": [
        "NG_050628.1:g.119957C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616748"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3285,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3285,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000507079.6:c.2774-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426147.2:n.2774-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2872,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2872,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000509165.2:c.2750-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423877.2:n.2750-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2774,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2774,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000697794.1:c.*2391-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513443.1:n.*2391-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2246,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2246,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000697799.1:n.2247-149C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 950,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000697801.1:n.951-149C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2478,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2478,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000698233.1:n.2479-149C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3186,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3186,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000226574.9:c.2750-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226574.4:n.2750-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226574.9:c.2750-149C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003998.4:c.2750-149C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226574.4:n.2750-149C>T"
          },
          "RefSeq": {
            "hgvs": "NP_003989.2:n.2750-149C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2725,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2725,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000652569.1:c.2726-149C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3249,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3249,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000652619.1:c.*1277-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499031.1:n.*1277-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3216,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3216,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000226574.8:c.2750-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226574.4:n.2750-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3211,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3211,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000394820.8:c.2747-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378297.4:n.2747-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3023,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3023,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000505458.5:c.2747-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424790.1:n.2747-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3345,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3345,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000600343.5:c.2207-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469340.1:n.2207-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3213,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3213,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001165412.1:c.2747-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158884.1:n.2747-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3216,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3216,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_003998.3:c.2750-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003989.2:n.2750-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_011532006.1:c.2771-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530308.1:n.2771-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2968,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2968,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_011532007.1:c.2747-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530309.1:n.2747-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2597,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2597,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_011532008.1:c.2591-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530310.1:n.2591-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2634,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2634,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_011532009.1:c.2354-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530311.1:n.2354-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3023,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3023,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001319226.1:c.2747-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306155.1:n.2747-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2983,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2983,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_011532006.2:c.2771-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530308.1:n.2771-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3347,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3347,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_024454067.1:c.2774-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309835.1:n.2774-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2763,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2763,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_024454068.1:c.2750-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309836.1:n.2750-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3190,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3190,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_024454069.1:c.2615-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309837.1:n.2615-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3186,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3186,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_003998.4:c.2750-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003989.2:n.2750-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666275",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226574.9:c.2750-149C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003998.4:c.2750-149C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226574.4:n.2750-149C>T"
          },
          "RefSeq": {
            "hgvs": "NP_003989.2:n.2750-149C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3183,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3183,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001165412.2:c.2747-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158884.1:n.2747-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2987,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 2987,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001319226.2:c.2747-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306155.1:n.2747-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3065,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3065,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001382625.1:c.2750-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369554.1:n.2750-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3256,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3256,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001382626.1:c.2750-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369555.1:n.2750-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3253,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3253,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001382627.1:c.2747-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369556.1:n.2747-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3137,
          "endIntronDirection": "-",
          "endIntronOffset": 148,
          "referenceAllele": "C",
          "start": 3137,
          "startIntronDirection": "-",
          "startIntronOffset": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001382628.1:c.2708-149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369557.1:n.2708-149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722472"
    }
  ],
  "type": "nucleotide"
}