{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116796",
  "communityStandardTitle": [
    "NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1668637",
        "active": true,
        "id": "COSM1668637"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19416[alleleid]",
        "alleleId": 19416,
        "preferredName": "NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4377",
        "RCV": [
          "RCV000004627",
          "RCV000004626",
          "RCV000084240",
          "RCV000214348",
          "RCV000527671"
        ],
        "variationId": 4377
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.247587658G>A?assembly=hg19",
        "id": "chr1:g.247587658G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.247424356G>A?assembly=hg38",
        "id": "chr1:g.247424356G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908153",
        "rs": 121908153
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-247424356-G-A?dataset=gnomad_r4",
        "id": "1-247424356-G-A",
        "variant": "1:247424356 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 247424356,
          "referenceAllele": "G",
          "start": 247424355
        }
      ],
      "hgvs": [
        "NC_000001.11:g.247424356G>A",
        "CM000663.2:g.247424356G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 247587658,
          "referenceAllele": "G",
          "start": 247587657
        }
      ],
      "hgvs": [
        "NC_000001.10:g.247587658G>A",
        "CM000663.1:g.247587658G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 245654281,
          "referenceAllele": "G",
          "start": 245654280
        }
      ],
      "hgvs": [
        "NC_000001.9:g.245654281G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13184,
          "referenceAllele": "G",
          "start": 13183
        }
      ],
      "hgvs": [
        "NG_007509.2:g.13184G>A",
        "LRG_197:g.13184G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000629"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "referenceAllele": "G",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000697350.1:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513275.1:p.Asp303Asn",
        "hgvsWellDefined": "ENSP00000513275.1:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000336119.8:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337383.4:p.Asp303Asn",
        "hgvsWellDefined": "ENSP00000337383.4:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336119.8:c.907G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001243133.2:c.907G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337383.4:p.Asp303Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001230062.1:p.Asp303Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1655,
          "referenceAllele": "G",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000348069.7:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294752.4:p.Asp303Asn",
        "hgvsWellDefined": "ENSP00000294752.4:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1655,
          "referenceAllele": "G",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366496.7:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355452.3:p.Asp303Asn",
        "hgvsWellDefined": "ENSP00000355452.3:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1677,
          "referenceAllele": "G",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391827.3:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375703.3:p.Asp303Asn",
        "hgvsWellDefined": "ENSP00000375703.3:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "G",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391828.8:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375704.4:p.Asp303Asn",
        "hgvsWellDefined": "ENSP00000375704.4:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000474792.2:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493937.2:p.Asp303Asn",
        "hgvsWellDefined": "ENSP00000493937.2:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000642259.1:c.772G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494332.1:p.Asp258Asn",
        "hgvsWellDefined": "ENSP00000494332.1:p.Asp258Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000643234.2:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493674.2:p.Asp303Asn",
        "hgvsWellDefined": "ENSP00000493674.2:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000336119.7:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337383.3:p.Asp305Asn",
        "hgvsWellDefined": "ENSP00000337383.3:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000348069.6:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294752.3:p.Asp305Asn",
        "hgvsWellDefined": "ENSP00000294752.3:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1656,
          "referenceAllele": "G",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366496.6:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355452.2:p.Asp305Asn",
        "hgvsWellDefined": "ENSP00000355452.2:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1693,
          "referenceAllele": "G",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000366497.6:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355453.2:p.Asp305Asn",
        "hgvsWellDefined": "ENSP00000355453.2:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391827.2:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375703.2:p.Asp305Asn",
        "hgvsWellDefined": "ENSP00000375703.2:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "G",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000391828.7:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375704.3:p.Asp305Asn",
        "hgvsWellDefined": "ENSP00000375704.3:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "ENST00000474792.1:n.1088G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097002",
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "G",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001079821.2:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073289.1:p.Asp305Asn",
        "hgvsWellDefined": "NP_001073289.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1693,
          "referenceAllele": "G",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127461.2:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120933.1:p.Asp305Asn",
        "hgvsWellDefined": "NP_001120933.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127462.2:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120934.1:p.Asp305Asn",
        "hgvsWellDefined": "NP_001120934.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116798",
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001243133.1:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230062.1:p.Asp303Asn",
        "hgvsWellDefined": "NP_001230062.1:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116799",
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_004895.4:c.913G>A",
        "LRG_197t1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004886.3:p.Asp305Asn",
        "hgvsWellDefined": "NP_004886.3:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916053119",
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_183395.2:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_899632.1:p.Asp305Asn",
        "hgvsWellDefined": "NP_899632.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1848,
          "referenceAllele": "G",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_005273036.2:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273093.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_005273093.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_005273037.2:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273094.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_005273094.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544048.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542350.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_011542350.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544049.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542351.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_011542351.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2292,
          "referenceAllele": "G",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544050.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542352.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_011542352.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544051.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542353.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_011542353.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544052.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542354.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_011542354.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544053.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542355.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_011542355.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544054.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542356.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_011542356.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544055.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542357.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_011542357.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "referenceAllele": "G",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_011544048.2:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542350.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_011542350.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000181.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855670.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_016855670.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "referenceAllele": "G",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000182.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855671.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_016855671.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000183.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855672.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_016855672.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_017000184.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855673.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_016855673.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "referenceAllele": "G",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_024452862.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308630.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_024308630.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "referenceAllele": "G",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "XM_024452874.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308642.1:p.Asp305Asn",
        "hgvsWellDefined": "XP_024308642.1:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825449029",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001079821.3:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073289.2:p.Asp303Asn",
        "hgvsWellDefined": "NP_001073289.2:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825608299",
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127461.3:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120933.2:p.Asp303Asn",
        "hgvsWellDefined": "NP_001120933.2:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825609180",
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001127462.3:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120934.2:p.Asp303Asn",
        "hgvsWellDefined": "NP_001120934.2:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676896"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116798",
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_001243133.2:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230062.1:p.Asp303Asn",
        "hgvsWellDefined": "NP_001230062.1:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336119.8:c.907G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001243133.2:c.907G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337383.4:p.Asp303Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001230062.1:p.Asp303Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA116799",
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_004895.5:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004886.3:p.Asp305Asn",
        "hgvsWellDefined": "NP_004886.3:p.Asp305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830417668",
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NM_183395.3:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_899632.2:p.Asp303Asn",
        "hgvsWellDefined": "NP_899632.2:p.Asp303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701178"
    }
  ],
  "type": "nucleotide"
}