{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3549380",
  "communityStandardTitle": [
    "NM_015238.3(WWC1):c.3160C>T (p.Arg1054Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1672110",
        "active": true,
        "id": "COSM1672110"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-167894854-C-T",
        "id": "5-167894854-C-T",
        "variant": "5:167894854 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.167894854C>T?assembly=hg19",
        "id": "chr5:g.167894854C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.168467849C>T?assembly=hg38",
        "id": "chr5:g.168467849C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749318706",
        "rs": 749318706
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-167894854-C-T?dataset=gnomad_r2_1",
        "id": "5-167894854-C-T",
        "variant": "5:167894854 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-168467849-C-T?dataset=gnomad_r4",
        "id": "5-168467849-C-T",
        "variant": "5:168467849 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 168467849,
          "referenceAllele": "C",
          "start": 168467848
        }
      ],
      "hgvs": [
        "NC_000005.10:g.168467849C>T",
        "CM000667.2:g.168467849C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 167894854,
          "referenceAllele": "C",
          "start": 167894853
        }
      ],
      "hgvs": [
        "NC_000005.9:g.167894854C>T",
        "CM000667.1:g.167894854C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 167827432,
          "referenceAllele": "C",
          "start": 167827431
        }
      ],
      "hgvs": [
        "NC_000005.8:g.167827432C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180790,
          "referenceAllele": "C",
          "start": 180789
        }
      ],
      "hgvs": [
        "NG_016712.1:g.180790C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003257"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3668,
          "referenceAllele": "C",
          "start": 3667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000265293.9:c.3160C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265293.4:p.Arg1054Ter",
        "hgvsWellDefined": "ENSP00000265293.4:p.Arg1054_Val1113delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265293.9:c.3160C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015238.3:c.3160C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265293.4:p.Arg1054Ter"
          },
          "RefSeq": {
            "hgvs": "NP_056053.1:p.Arg1054Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3662,
          "referenceAllele": "C",
          "start": 3661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000265293.8:c.3160C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265293.4:p.Arg1054Ter",
        "hgvsWellDefined": "ENSP00000265293.4:p.Arg1054_Val1113delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3059,
          "referenceAllele": "C",
          "start": 3058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000393895.7:c.3059C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS275864"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157,
          "referenceAllele": "C",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000518204.1:n.157C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000521089.5:c.3178C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427772.1:p.Arg1060Ter",
        "hgvsWellDefined": "ENSP00000427772.1:p.Arg1060_Val1119delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42,
          "referenceAllele": "C",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000521391.1:n.42C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000522140.1:n.976C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000524038.5:c.1153C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428084.1:p.Arg385Ter",
        "hgvsWellDefined": "ENSP00000428084.1:p.Arg385_Val444delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2486,
          "referenceAllele": "C",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000524228.5:c.2486C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000619752.1:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483898.1:p.Arg326Ter",
        "hgvsWellDefined": "ENSP00000483898.1:p.Arg326_Arg337delinsAlaGluHisLysGlyGluLeuGlnThrThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3271,
          "referenceAllele": "C",
          "start": 3270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_001161661.1:c.3178C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155133.1:p.Arg1060Ter",
        "hgvsWellDefined": "NP_001155133.1:p.Arg1060_Val1119delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3268,
          "referenceAllele": "C",
          "start": 3267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_001161662.1:c.3175C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155134.1:p.Arg1059Ter",
        "hgvsWellDefined": "NP_001155134.1:p.Arg1059_Val1118delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071106127",
      "coordinates": [
        {
          "allele": "T",
          "end": 3253,
          "referenceAllele": "C",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_015238.2:c.3160C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056053.1:p.Arg1054Ter",
        "hgvsWellDefined": "NP_056053.1:p.Arg1054_Val1113delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3243,
          "referenceAllele": "C",
          "start": 3242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_005265850.1:c.3193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265907.1:p.Arg1065Ter",
        "hgvsWellDefined": "XP_005265907.1:p.Arg1065_Val1124delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3207,
          "referenceAllele": "C",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_005265853.1:c.3157C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265910.1:p.Arg1053Ter",
        "hgvsWellDefined": "XP_005265910.1:p.Arg1053_Val1112delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3426,
          "referenceAllele": "C",
          "start": 3425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534485.1:c.3376C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532787.1:p.Arg1126Ter",
        "hgvsWellDefined": "XP_011532787.1:p.Arg1126_Val1185delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3423,
          "referenceAllele": "C",
          "start": 3422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534486.1:c.3373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532788.1:p.Arg1125Ter",
        "hgvsWellDefined": "XP_011532788.1:p.Arg1125_Val1184delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3411,
          "referenceAllele": "C",
          "start": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534487.1:c.3361C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532789.1:p.Arg1121Ter",
        "hgvsWellDefined": "XP_011532789.1:p.Arg1121_Val1180delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3408,
          "referenceAllele": "C",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534488.1:c.3358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532790.1:p.Arg1120Ter",
        "hgvsWellDefined": "XP_011532790.1:p.Arg1120_Val1179delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3408,
          "referenceAllele": "C",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534489.1:c.3358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532791.1:p.Arg1120Ter",
        "hgvsWellDefined": "XP_011532791.1:p.Arg1120_Val1179delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3405,
          "referenceAllele": "C",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534490.1:c.3355C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532792.1:p.Arg1119Ter",
        "hgvsWellDefined": "XP_011532792.1:p.Arg1119_Val1178delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3393,
          "referenceAllele": "C",
          "start": 3392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534491.1:c.3343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532793.1:p.Arg1115Ter",
        "hgvsWellDefined": "XP_011532793.1:p.Arg1115_Val1174delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3207,
          "referenceAllele": "C",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_005265853.2:c.3157C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265910.1:p.Arg1053Ter",
        "hgvsWellDefined": "XP_005265910.1:p.Arg1053_Val1112delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3390,
          "referenceAllele": "C",
          "start": 3389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_017009276.1:c.3340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864765.1:p.Arg1114Ter",
        "hgvsWellDefined": "XP_016864765.1:p.Arg1114_Val1173delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3678,
          "referenceAllele": "C",
          "start": 3677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_017009278.1:c.2911C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864767.1:p.Arg971Ter",
        "hgvsWellDefined": "XP_016864767.1:p.Arg971_Val1030delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3686,
          "referenceAllele": "C",
          "start": 3685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_001161661.2:c.3178C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155133.1:p.Arg1060Ter",
        "hgvsWellDefined": "NP_001155133.1:p.Arg1060_Val1119delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3683,
          "referenceAllele": "C",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_001161662.2:c.3175C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155134.1:p.Arg1059Ter",
        "hgvsWellDefined": "NP_001155134.1:p.Arg1059_Val1118delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071106127",
      "coordinates": [
        {
          "allele": "T",
          "end": 3668,
          "referenceAllele": "C",
          "start": 3667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_015238.3:c.3160C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056053.1:p.Arg1054Ter",
        "hgvsWellDefined": "NP_056053.1:p.Arg1054_Val1113delinsAlaGluHisLysGlyGluLeuGlnThrAspLysMetMetArgAlaAlaAlaLysAspValHisArgLeuArgGlyGlnSerCysLysGluProProGluValGlnSerPheArgGluLysMetAlaPhePheThrArgProArgMetAsnIleProAlaLeuSerAlaAspAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697481",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265293.9:c.3160C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015238.3:c.3160C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265293.4:p.Arg1054Ter"
          },
          "RefSeq": {
            "hgvs": "NP_056053.1:p.Arg1054Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}