{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345565085",
  "communityStandardTitle": [
    "NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2052659",
        "active": true,
        "id": "COSM2052659"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=439865[alleleid]",
        "alleleId": 439865,
        "preferredName": "NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446409",
        "RCV": [
          "RCV000515640",
          "RCV000693681",
          "RCV001591164",
          "RCV003335442"
        ],
        "variationId": 446409
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.247607363G>A?assembly=hg19",
        "id": "chr1:g.247607363G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.247444061G>A?assembly=hg38",
        "id": "chr1:g.247444061G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553293095",
        "rs": 1553293095
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247444061-G-A?dataset=gnomad_r4",
        "id": "1-247444061-G-A",
        "variant": "1:247444061 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 247444061,
          "referenceAllele": "G",
          "start": 247444060
        }
      ],
      "hgvs": [
        "NC_000001.11:g.247444061G>A",
        "CM000663.2:g.247444061G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 247607363,
          "referenceAllele": "G",
          "start": 247607362
        }
      ],
      "hgvs": [
        "NC_000001.10:g.247607363G>A",
        "CM000663.1:g.247607363G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 245673986,
          "referenceAllele": "G",
          "start": 245673985
        }
      ],
      "hgvs": [
        "NC_000001.9:g.245673986G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32889,
          "referenceAllele": "G",
          "start": 32888
        }
      ],
      "hgvs": [
        "NG_007509.2:g.32889G>A",
        "LRG_197:g.32889G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000629"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2990,
          "referenceAllele": "G",
          "start": 2989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000697350.1:c.2753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513275.1:p.Arg918Gln",
        "hgvsWellDefined": "ENSP00000513275.1:p.Arg918Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3522,
          "referenceAllele": "G",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000336119.8:c.2753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337383.4:p.Arg918Gln",
        "hgvsWellDefined": "ENSP00000337383.4:p.Arg918Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336119.8:c.2753G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001243133.2:c.2753G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337383.4:p.Arg918Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001230062.1:p.Arg918Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3159,
          "referenceAllele": "G",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000348069.7:c.2411G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294752.4:p.Arg804Gln",
        "hgvsWellDefined": "ENSP00000294752.4:p.Arg804Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3330,
          "referenceAllele": "G",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366496.7:c.2582G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355452.3:p.Arg861Gln",
        "hgvsWellDefined": "ENSP00000355452.3:p.Arg861Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3352,
          "referenceAllele": "G",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391827.3:c.2582G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375703.3:p.Arg861Gln",
        "hgvsWellDefined": "ENSP00000375703.3:p.Arg861Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "G",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391828.8:c.2753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375704.4:p.Arg918Gln",
        "hgvsWellDefined": "ENSP00000375704.4:p.Arg918Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2789,
          "referenceAllele": "G",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000642259.1:c.2789G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494332.1:n.2789G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2764,
          "referenceAllele": "G",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000643234.2:c.2693G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493674.2:p.Arg898Gln",
        "hgvsWellDefined": "ENSP00000493674.2:p.Arg898Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000336119.7:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337383.3:p.Arg920Gln",
        "hgvsWellDefined": "ENSP00000337383.3:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3163,
          "referenceAllele": "G",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000348069.6:c.2417G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294752.3:p.Arg806Gln",
        "hgvsWellDefined": "ENSP00000294752.3:p.Arg806Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3331,
          "referenceAllele": "G",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366496.6:c.2588G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355452.2:p.Arg863Gln",
        "hgvsWellDefined": "ENSP00000355452.2:p.Arg863Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3368,
          "referenceAllele": "G",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366497.6:c.2588G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355453.2:p.Arg863Gln",
        "hgvsWellDefined": "ENSP00000355453.2:p.Arg863Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2588,
          "referenceAllele": "G",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391827.2:c.2588G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375703.2:p.Arg863Gln",
        "hgvsWellDefined": "ENSP00000375703.2:p.Arg863Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "G",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391828.7:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375704.3:p.Arg920Gln",
        "hgvsWellDefined": "ENSP00000375704.3:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 155,
          "referenceAllele": "G",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000532083.1:n.155G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "G",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001079821.2:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073289.1:p.Arg920Gln",
        "hgvsWellDefined": "NP_001073289.1:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3368,
          "referenceAllele": "G",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127461.2:c.2588G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120933.1:p.Arg863Gln",
        "hgvsWellDefined": "NP_001120933.1:p.Arg863Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3334,
          "referenceAllele": "G",
          "start": 3333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127462.2:c.2588G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120934.1:p.Arg863Gln",
        "hgvsWellDefined": "NP_001120934.1:p.Arg863Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826316268",
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001243133.1:c.2753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230062.1:p.Arg918Gln",
        "hgvsWellDefined": "NP_001230062.1:p.Arg918Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676435",
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_004895.4:c.2759G>A",
        "LRG_197t1:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004886.3:p.Arg920Gln",
        "hgvsWellDefined": "NP_004886.3:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3163,
          "referenceAllele": "G",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_183395.2:c.2417G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_899632.1:p.Arg806Gln",
        "hgvsWellDefined": "NP_899632.1:p.Arg806Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3694,
          "referenceAllele": "G",
          "start": 3693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_005273036.2:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273093.1:p.Arg920Gln",
        "hgvsWellDefined": "XP_005273093.1:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3196,
          "referenceAllele": "G",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_005273037.2:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273094.1:p.Arg920Gln",
        "hgvsWellDefined": "XP_005273094.1:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3607,
          "referenceAllele": "G",
          "start": 3606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544048.1:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542350.1:p.Arg920Gln",
        "hgvsWellDefined": "XP_011542350.1:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3522,
          "referenceAllele": "G",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544049.1:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542351.1:p.Arg920Gln",
        "hgvsWellDefined": "XP_011542351.1:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4138,
          "referenceAllele": "G",
          "start": 4137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544050.1:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542352.1:p.Arg920Gln",
        "hgvsWellDefined": "XP_011542352.1:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3141,
          "referenceAllele": "G",
          "start": 3140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544051.1:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542353.1:p.Arg920Gln",
        "hgvsWellDefined": "XP_011542353.1:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3436,
          "referenceAllele": "G",
          "start": 3435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544052.1:c.2588G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542354.1:p.Arg863Gln",
        "hgvsWellDefined": "XP_011542354.1:p.Arg863Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3180,
          "referenceAllele": "G",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544053.1:c.2417G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542355.1:p.Arg806Gln",
        "hgvsWellDefined": "XP_011542355.1:p.Arg806Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3265,
          "referenceAllele": "G",
          "start": 3264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544054.1:c.2417G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542356.1:p.Arg806Gln",
        "hgvsWellDefined": "XP_011542356.1:p.Arg806Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3009,
          "referenceAllele": "G",
          "start": 3008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544055.1:c.2246G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542357.1:p.Arg749Gln",
        "hgvsWellDefined": "XP_011542357.1:p.Arg749Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3644,
          "referenceAllele": "G",
          "start": 3643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544048.2:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542350.1:p.Arg920Gln",
        "hgvsWellDefined": "XP_011542350.1:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3121,
          "referenceAllele": "G",
          "start": 3120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000181.1:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855670.1:p.Arg920Gln",
        "hgvsWellDefined": "XP_016855670.1:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000182.1:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855671.1:p.Arg920Gln",
        "hgvsWellDefined": "XP_016855671.1:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3361,
          "referenceAllele": "G",
          "start": 3360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000183.1:c.2588G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855672.1:p.Arg863Gln",
        "hgvsWellDefined": "XP_016855672.1:p.Arg863Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3190,
          "referenceAllele": "G",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000184.1:c.2417G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855673.1:p.Arg806Gln",
        "hgvsWellDefined": "XP_016855673.1:p.Arg806Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3302,
          "referenceAllele": "G",
          "start": 3301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_024452862.1:c.2417G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308630.1:p.Arg806Gln",
        "hgvsWellDefined": "XP_024308630.1:p.Arg806Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3131,
          "referenceAllele": "G",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_024452874.1:c.2246G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308642.1:p.Arg749Gln",
        "hgvsWellDefined": "XP_024308642.1:p.Arg749Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825449709",
      "coordinates": [
        {
          "allele": "A",
          "end": 2880,
          "referenceAllele": "G",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001079821.3:c.2753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073289.2:p.Arg918Gln",
        "hgvsWellDefined": "NP_001073289.2:p.Arg918Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825608830",
      "coordinates": [
        {
          "allele": "A",
          "end": 3351,
          "referenceAllele": "G",
          "start": 3350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127461.3:c.2582G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120933.2:p.Arg861Gln",
        "hgvsWellDefined": "NP_001120933.2:p.Arg861Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825609769",
      "coordinates": [
        {
          "allele": "A",
          "end": 3351,
          "referenceAllele": "G",
          "start": 3350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127462.3:c.2582G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120934.2:p.Arg861Gln",
        "hgvsWellDefined": "NP_001120934.2:p.Arg861Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676896"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826316268",
      "coordinates": [
        {
          "allele": "A",
          "end": 3522,
          "referenceAllele": "G",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001243133.2:c.2753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230062.1:p.Arg918Gln",
        "hgvsWellDefined": "NP_001230062.1:p.Arg918Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336119.8:c.2753G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001243133.2:c.2753G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337383.4:p.Arg918Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001230062.1:p.Arg918Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676435",
      "coordinates": [
        {
          "allele": "A",
          "end": 3522,
          "referenceAllele": "G",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_004895.5:c.2759G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004886.3:p.Arg920Gln",
        "hgvsWellDefined": "NP_004886.3:p.Arg920Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830418226",
      "coordinates": [
        {
          "allele": "A",
          "end": 3180,
          "referenceAllele": "G",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_183395.3:c.2411G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_899632.2:p.Arg804Gln",
        "hgvsWellDefined": "NP_899632.2:p.Arg804Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701178"
    }
  ],
  "type": "nucleotide"
}