{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA281339",
  "communityStandardTitle": [
    "NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103858[alleleid]",
        "alleleId": 103858,
        "preferredName": "NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97966",
        "RCV": [
          "RCV000084227",
          "RCV000217712",
          "RCV001078842",
          "RCV002262695",
          "RCV004529880"
        ],
        "variationId": 97966
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-247587425-C-T",
        "id": "1-247587425-C-T",
        "variant": "1:247587425 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.247587425C>T?assembly=hg19",
        "id": "chr1:g.247587425C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.247424123C>T?assembly=hg38",
        "id": "chr1:g.247424123C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180177493",
        "rs": 180177493
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247587425-C-T?dataset=gnomad_r2_1",
        "id": "1-247587425-C-T",
        "variant": "1:247587425 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247424123-C-T?dataset=gnomad_r3",
        "id": "1-247424123-C-T",
        "variant": "1:247424123 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247424123-C-T?dataset=gnomad_r4",
        "id": "1-247424123-C-T",
        "variant": "1:247424123 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 247424123,
          "referenceAllele": "C",
          "start": 247424122
        }
      ],
      "hgvs": [
        "NC_000001.11:g.247424123C>T",
        "CM000663.2:g.247424123C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 247587425,
          "referenceAllele": "C",
          "start": 247587424
        }
      ],
      "hgvs": [
        "NC_000001.10:g.247587425C>T",
        "CM000663.1:g.247587425C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 245654048,
          "referenceAllele": "C",
          "start": 245654047
        }
      ],
      "hgvs": [
        "NC_000001.9:g.245654048C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12951,
          "referenceAllele": "C",
          "start": 12950
        }
      ],
      "hgvs": [
        "NG_007509.2:g.12951C>T",
        "LRG_197:g.12951C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000629"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000697350.1:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513275.1:p.Ala225Val",
        "hgvsWellDefined": "ENSP00000513275.1:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000336119.8:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337383.4:p.Ala225Val",
        "hgvsWellDefined": "ENSP00000337383.4:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336119.8:c.674C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001243133.2:c.674C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337383.4:p.Ala225Val"
          },
          "RefSeq": {
            "hgvs": "NP_001230062.1:p.Ala225Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000348069.7:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294752.4:p.Ala225Val",
        "hgvsWellDefined": "ENSP00000294752.4:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366496.7:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355452.3:p.Ala225Val",
        "hgvsWellDefined": "ENSP00000355452.3:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391827.3:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375703.3:p.Ala225Val",
        "hgvsWellDefined": "ENSP00000375703.3:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391828.8:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375704.4:p.Ala225Val",
        "hgvsWellDefined": "ENSP00000375704.4:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000474792.2:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493937.2:p.Ala225Val",
        "hgvsWellDefined": "ENSP00000493937.2:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000642259.1:c.539C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494332.1:p.Ala180Val",
        "hgvsWellDefined": "ENSP00000494332.1:p.Ala180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000643234.2:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493674.2:p.Ala225Val",
        "hgvsWellDefined": "ENSP00000493674.2:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000336119.7:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337383.3:p.Ala227Val",
        "hgvsWellDefined": "ENSP00000337383.3:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000348069.6:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294752.3:p.Ala227Val",
        "hgvsWellDefined": "ENSP00000294752.3:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366496.6:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355452.2:p.Ala227Val",
        "hgvsWellDefined": "ENSP00000355452.2:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366497.6:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355453.2:p.Ala227Val",
        "hgvsWellDefined": "ENSP00000355453.2:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391827.2:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375703.2:p.Ala227Val",
        "hgvsWellDefined": "ENSP00000375703.2:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391828.7:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375704.3:p.Ala227Val",
        "hgvsWellDefined": "ENSP00000375704.3:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000474792.1:n.855C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001079821.2:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073289.1:p.Ala227Val",
        "hgvsWellDefined": "NP_001073289.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127461.2:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120933.1:p.Ala227Val",
        "hgvsWellDefined": "NP_001120933.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127462.2:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120934.1:p.Ala227Val",
        "hgvsWellDefined": "NP_001120934.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281341",
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001243133.1:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230062.1:p.Ala225Val",
        "hgvsWellDefined": "NP_001230062.1:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281342",
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_004895.4:c.680C>T",
        "LRG_197t1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004886.3:p.Ala227Val",
        "hgvsWellDefined": "NP_004886.3:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916053069",
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_183395.2:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_899632.1:p.Ala227Val",
        "hgvsWellDefined": "NP_899632.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_005273036.2:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273093.1:p.Ala227Val",
        "hgvsWellDefined": "XP_005273093.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_005273037.2:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273094.1:p.Ala227Val",
        "hgvsWellDefined": "XP_005273094.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1528,
          "referenceAllele": "C",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544048.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542350.1:p.Ala227Val",
        "hgvsWellDefined": "XP_011542350.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544049.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542351.1:p.Ala227Val",
        "hgvsWellDefined": "XP_011542351.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2059,
          "referenceAllele": "C",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544050.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542352.1:p.Ala227Val",
        "hgvsWellDefined": "XP_011542352.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "C",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544051.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542353.1:p.Ala227Val",
        "hgvsWellDefined": "XP_011542353.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1528,
          "referenceAllele": "C",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544052.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542354.1:p.Ala227Val",
        "hgvsWellDefined": "XP_011542354.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544053.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542355.1:p.Ala227Val",
        "hgvsWellDefined": "XP_011542355.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1528,
          "referenceAllele": "C",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544054.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542356.1:p.Ala227Val",
        "hgvsWellDefined": "XP_011542356.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544055.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542357.1:p.Ala227Val",
        "hgvsWellDefined": "XP_011542357.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "referenceAllele": "C",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544048.2:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542350.1:p.Ala227Val",
        "hgvsWellDefined": "XP_011542350.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000181.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855670.1:p.Ala227Val",
        "hgvsWellDefined": "XP_016855670.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000182.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855671.1:p.Ala227Val",
        "hgvsWellDefined": "XP_016855671.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000183.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855672.1:p.Ala227Val",
        "hgvsWellDefined": "XP_016855672.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000184.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855673.1:p.Ala227Val",
        "hgvsWellDefined": "XP_016855673.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556594"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "referenceAllele": "C",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_024452862.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308630.1:p.Ala227Val",
        "hgvsWellDefined": "XP_024308630.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "referenceAllele": "C",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_024452874.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308642.1:p.Ala227Val",
        "hgvsWellDefined": "XP_024308642.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825448935",
      "coordinates": [
        {
          "allele": "T",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001079821.3:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073289.2:p.Ala225Val",
        "hgvsWellDefined": "NP_001073289.2:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825608187",
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127461.3:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120933.2:p.Ala225Val",
        "hgvsWellDefined": "NP_001120933.2:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825609097",
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127462.3:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120934.2:p.Ala225Val",
        "hgvsWellDefined": "NP_001120934.2:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676896"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281341",
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001243133.2:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230062.1:p.Ala225Val",
        "hgvsWellDefined": "NP_001230062.1:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336119.8:c.674C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001243133.2:c.674C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337383.4:p.Ala225Val"
          },
          "RefSeq": {
            "hgvs": "NP_001230062.1:p.Ala225Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA281342",
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_004895.5:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004886.3:p.Ala227Val",
        "hgvsWellDefined": "NP_004886.3:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830417565",
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_183395.3:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_899632.2:p.Ala225Val",
        "hgvsWellDefined": "NP_899632.2:p.Ala225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701178"
    }
  ],
  "type": "nucleotide"
}