{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1494749",
  "communityStandardTitle": [
    "NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=864193[alleleid]",
        "alleleId": 864193,
        "preferredName": "NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/875720",
        "RCV": [
          "RCV001099837",
          "RCV001101829",
          "RCV001101830",
          "RCV002482177",
          "RCV003594092"
        ],
        "variationId": 875720
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-247582224-G-A",
        "id": "1-247582224-G-A",
        "variant": "1:247582224 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.247582224G>A?assembly=hg19",
        "id": "chr1:g.247582224G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.247418922G>A?assembly=hg38",
        "id": "chr1:g.247418922G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201384608",
        "rs": 201384608
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247582224-G-A?dataset=gnomad_r2_1",
        "id": "1-247582224-G-A",
        "variant": "1:247582224 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247418922-G-A?dataset=gnomad_r3",
        "id": "1-247418922-G-A",
        "variant": "1:247418922 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247418922-G-A?dataset=gnomad_r4",
        "id": "1-247418922-G-A",
        "variant": "1:247418922 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 247418922,
          "referenceAllele": "G",
          "start": 247418921
        }
      ],
      "hgvs": [
        "NC_000001.11:g.247418922G>A",
        "CM000663.2:g.247418922G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 247582224,
          "referenceAllele": "G",
          "start": 247582223
        }
      ],
      "hgvs": [
        "NC_000001.10:g.247582224G>A",
        "CM000663.1:g.247582224G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 245648847,
          "referenceAllele": "G",
          "start": 245648846
        }
      ],
      "hgvs": [
        "NC_000001.9:g.245648847G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7750,
          "referenceAllele": "G",
          "start": 7749
        }
      ],
      "hgvs": [
        "NG_007509.2:g.7750G>A",
        "LRG_197:g.7750G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000629"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000697350.1:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513275.1:p.Arg41Lys",
        "hgvsWellDefined": "ENSP00000513275.1:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000336119.8:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337383.4:p.Arg41Lys",
        "hgvsWellDefined": "ENSP00000337383.4:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336119.8:c.122G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001243133.2:c.122G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337383.4:p.Arg41Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001230062.1:p.Arg41Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 870,
          "referenceAllele": "G",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000348069.7:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294752.4:p.Arg41Lys",
        "hgvsWellDefined": "ENSP00000294752.4:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 870,
          "referenceAllele": "G",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366496.7:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355452.3:p.Arg41Lys",
        "hgvsWellDefined": "ENSP00000355452.3:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391827.3:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375703.3:p.Arg41Lys",
        "hgvsWellDefined": "ENSP00000375703.3:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391828.8:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375704.4:p.Arg41Lys",
        "hgvsWellDefined": "ENSP00000375704.4:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 303,
          "referenceAllele": "G",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000474792.2:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493937.2:p.Arg41Lys",
        "hgvsWellDefined": "ENSP00000493937.2:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "referenceAllele": "G",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000643234.2:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493674.2:p.Arg41Lys",
        "hgvsWellDefined": "ENSP00000493674.2:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000336119.7:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337383.3:p.Arg43Lys",
        "hgvsWellDefined": "ENSP00000337383.3:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000348069.6:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294752.3:p.Arg43Lys",
        "hgvsWellDefined": "ENSP00000294752.3:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366496.6:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355452.2:p.Arg43Lys",
        "hgvsWellDefined": "ENSP00000355452.2:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366497.6:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355453.2:p.Arg43Lys",
        "hgvsWellDefined": "ENSP00000355453.2:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391827.2:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375703.2:p.Arg43Lys",
        "hgvsWellDefined": "ENSP00000375703.2:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391828.7:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375704.3:p.Arg43Lys",
        "hgvsWellDefined": "ENSP00000375704.3:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 303,
          "referenceAllele": "G",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000474792.1:n.303G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001079821.2:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073289.1:p.Arg43Lys",
        "hgvsWellDefined": "NP_001073289.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127461.2:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120933.1:p.Arg43Lys",
        "hgvsWellDefined": "NP_001120933.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127462.2:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120934.1:p.Arg43Lys",
        "hgvsWellDefined": "NP_001120934.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826315699",
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001243133.1:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230062.1:p.Arg41Lys",
        "hgvsWellDefined": "NP_001230062.1:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139705974",
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_004895.4:c.128G>A",
        "LRG_197t1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004886.3:p.Arg43Lys",
        "hgvsWellDefined": "NP_004886.3:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_183395.2:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_899632.1:p.Arg43Lys",
        "hgvsWellDefined": "NP_899632.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_005273036.2:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273093.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_005273093.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "referenceAllele": "G",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_005273037.2:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273094.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_005273094.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544048.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542350.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_011542350.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544049.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542351.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_011542351.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1507,
          "referenceAllele": "G",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544050.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542352.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_011542352.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544051.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542353.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_011542353.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544052.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542354.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_011542354.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544053.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542355.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_011542355.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544054.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542356.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_011542356.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544055.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542357.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_011542357.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "referenceAllele": "G",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544048.2:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542350.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_011542350.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000181.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855670.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_016855670.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000182.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855671.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_016855671.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000183.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855672.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_016855672.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000184.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855673.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_016855673.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "referenceAllele": "G",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_024452862.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308630.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_024308630.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "referenceAllele": "G",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_024452874.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308642.1:p.Arg43Lys",
        "hgvsWellDefined": "XP_024308642.1:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825448751",
      "coordinates": [
        {
          "allele": "A",
          "end": 249,
          "referenceAllele": "G",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001079821.3:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073289.2:p.Arg41Lys",
        "hgvsWellDefined": "NP_001073289.2:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825607988",
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127461.3:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120933.2:p.Arg41Lys",
        "hgvsWellDefined": "NP_001120933.2:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825608946",
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127462.3:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120934.2:p.Arg41Lys",
        "hgvsWellDefined": "NP_001120934.2:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676896"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826315699",
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001243133.2:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230062.1:p.Arg41Lys",
        "hgvsWellDefined": "NP_001230062.1:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336119.8:c.122G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001243133.2:c.122G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337383.4:p.Arg41Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001230062.1:p.Arg41Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139705974",
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_004895.5:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004886.3:p.Arg43Lys",
        "hgvsWellDefined": "NP_004886.3:p.Arg43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830417382",
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_183395.3:c.122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_899632.2:p.Arg41Lys",
        "hgvsWellDefined": "NP_899632.2:p.Arg41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701178"
    }
  ],
  "type": "nucleotide"
}