{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1495275",
  "communityStandardTitle": [
    "NM_001243133.2(NLRP3):c.2493-40G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1249182[alleleid]",
        "alleleId": 1249182,
        "preferredName": "NM_001243133.2(NLRP3):c.2493-40G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1259697",
        "RCV": [
          "RCV001666614",
          "RCV003394197"
        ],
        "variationId": 1259697
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-247599232-G-A",
        "id": "1-247599232-G-A",
        "variant": "1:247599232 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.247599232G>A?assembly=hg19",
        "id": "chr1:g.247599232G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.247435930G>A?assembly=hg38",
        "id": "chr1:g.247435930G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10754557",
        "rs": 10754557
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247599232-G-A?dataset=gnomad_r2_1",
        "id": "1-247599232-G-A",
        "variant": "1:247599232 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247435930-G-A?dataset=gnomad_r3",
        "id": "1-247435930-G-A",
        "variant": "1:247435930 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247435930-G-A?dataset=gnomad_r4",
        "id": "1-247435930-G-A",
        "variant": "1:247435930 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 247435930,
          "referenceAllele": "G",
          "start": 247435929
        }
      ],
      "hgvs": [
        "NC_000001.11:g.247435930G>A",
        "CM000663.2:g.247435930G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 247599232,
          "referenceAllele": "G",
          "start": 247599231
        }
      ],
      "hgvs": [
        "NC_000001.10:g.247599232G>A",
        "CM000663.1:g.247599232G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 245665855,
          "referenceAllele": "G",
          "start": 245665854
        }
      ],
      "hgvs": [
        "NC_000001.9:g.245665855G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24758,
          "referenceAllele": "G",
          "start": 24757
        }
      ],
      "hgvs": [
        "NG_007509.2:g.24758G>A",
        "LRG_197:g.24758G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000629"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2729,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2729,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000697350.1:c.2493-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513275.1:n.2493-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3261,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3261,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000336119.8:c.2493-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337383.4:n.2493-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336119.8:c.2493-40G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001243133.2:c.2493-40G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337383.4:n.2493-40G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001230062.1:n.2493-40G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3069,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3069,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000348069.7:c.2321+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294752.4:n.2321+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3240,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3240,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366496.7:c.2492+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355452.3:n.2492+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3091,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3091,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391827.3:c.2322-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375703.3:n.2322-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2636,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2636,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391828.8:c.2493-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375704.4:n.2493-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2528,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2528,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000642259.1:c.2529-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494332.1:n.2529-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2503,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000643234.2:c.2433-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493674.2:n.2433-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3244,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3244,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000336119.7:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337383.3:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3073,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3073,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000348069.6:c.2327+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294752.3:n.2327+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3241,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3241,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366496.6:c.2498+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355452.2:n.2498+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3278,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3278,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366497.6:c.2498+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355453.2:n.2498+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2327,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2327,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391827.2:c.2328-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375703.2:n.2328-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2636,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2636,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391828.7:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375704.3:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2636,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2636,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001079821.2:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073289.1:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3278,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3278,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127461.2:c.2498+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120933.1:n.2498+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3073,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3073,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127462.2:c.2328-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120934.1:n.2328-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3244,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3244,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001243133.1:c.2493-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230062.1:n.2493-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3244,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3244,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_004895.4:c.2499-40G>A",
        "LRG_197t1:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004886.3:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3073,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3073,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_183395.2:c.2327+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_899632.1:n.2327+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3433,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3433,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_005273036.2:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273093.1:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2935,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2935,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_005273037.2:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273094.1:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3346,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3346,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544048.1:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542350.1:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3261,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3261,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544049.1:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542351.1:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3877,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3877,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544050.1:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542352.1:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2880,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2880,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544051.1:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542353.1:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3175,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3175,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544052.1:c.2328-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542354.1:n.2328-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3090,
          "endIntronDirection": "+",
          "endIntronOffset": 6175,
          "referenceAllele": "G",
          "start": 3090,
          "startIntronDirection": "+",
          "startIntronOffset": 6174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544053.1:c.2327+6175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542355.1:n.2327+6175G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3175,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3175,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544054.1:c.2327+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542356.1:n.2327+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2919,
          "endIntronDirection": "-",
          "endIntronOffset": 8041,
          "referenceAllele": "G",
          "start": 2919,
          "startIntronDirection": "-",
          "startIntronOffset": 8042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544055.1:c.2157-8042G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542357.1:n.2157-8042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3383,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3383,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544048.2:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542350.1:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2860,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2860,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000181.1:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855670.1:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2805,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2805,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000182.1:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855671.1:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3100,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3100,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000183.1:c.2328-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855672.1:n.2328-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3100,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3100,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000184.1:c.2327+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855673.1:n.2327+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3212,
          "endIntronDirection": "+",
          "endIntronOffset": 6175,
          "referenceAllele": "G",
          "start": 3212,
          "startIntronDirection": "+",
          "startIntronOffset": 6174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_024452862.1:c.2327+6175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308630.1:n.2327+6175G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3041,
          "endIntronDirection": "-",
          "endIntronOffset": 8041,
          "referenceAllele": "G",
          "start": 3041,
          "startIntronDirection": "-",
          "startIntronOffset": 8042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_024452874.1:c.2157-8042G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308642.1:n.2157-8042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 2619,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001079821.3:c.2493-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073289.2:n.2493-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3261,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3261,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127461.3:c.2492+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120933.2:n.2492+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3090,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3090,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127462.3:c.2322-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120934.2:n.2322-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3261,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3261,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001243133.2:c.2493-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230062.1:n.2493-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336119.8:c.2493-40G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001243133.2:c.2493-40G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337383.4:n.2493-40G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001230062.1:n.2493-40G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3261,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 3261,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_004895.5:c.2499-40G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004886.3:n.2499-40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3090,
          "endIntronDirection": "+",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 3090,
          "startIntronDirection": "+",
          "startIntronOffset": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_183395.3:c.2321+1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_899632.2:n.2321+1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701178"
    }
  ],
  "type": "nucleotide"
}