{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366078625",
  "communityStandardTitle": [
    "NM_182961.4(SYNE1):c.25717A>T (p.Lys8573Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1325263[alleleid]",
        "alleleId": 1325263,
        "preferredName": "NM_182961.4(SYNE1):c.25717A>T (p.Lys8573Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1334391",
        "RCV": [
          "RCV001813905"
        ],
        "variationId": 1334391
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.152456310T>A?assembly=hg19",
        "id": "chr6:g.152456310T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.152135175T>A?assembly=hg38",
        "id": "chr6:g.152135175T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1562922141",
        "rs": 1562922141
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-152135175-T-A?dataset=gnomad_r4",
        "id": "6-152135175-T-A",
        "variant": "6:152135175 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 152135175,
          "referenceAllele": "T",
          "start": 152135174
        }
      ],
      "hgvs": [
        "NC_000006.12:g.152135175T>A",
        "CM000668.2:g.152135175T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 152456310,
          "referenceAllele": "T",
          "start": 152456309
        }
      ],
      "hgvs": [
        "NC_000006.11:g.152456310T>A",
        "CM000668.1:g.152456310T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 152498003,
          "referenceAllele": "T",
          "start": 152498002
        }
      ],
      "hgvs": [
        "NC_000006.10:g.152498003T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507225,
          "referenceAllele": "A",
          "start": 507224
        }
      ],
      "hgvs": [
        "NG_012855.1:g.507225A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507225,
          "referenceAllele": "A",
          "start": 507224
        }
      ],
      "hgvs": [
        "NG_012855.2:g.507225A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673620"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2359,
          "referenceAllele": "A",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000354674.5:c.2251A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346701.4:p.Lys751Ter",
        "hgvsWellDefined": "ENSP00000346701.4:p.Lys751_Leu975delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354674.5:c.2251A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001347702.2:c.2251A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346701.4:p.Lys751Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001334631.1:p.Lys751Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26282,
          "referenceAllele": "A",
          "start": 26281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367255.10:c.25717A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356224.5:p.Lys8573Ter",
        "hgvsWellDefined": "ENSP00000356224.5:p.Lys8573_Leu8797delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.25717A>T"
          },
          "RefSeq": {
            "hgvs": "NM_182961.4:c.25717A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Lys8573Ter"
          },
          "RefSeq": {
            "hgvs": "NP_892006.3:p.Lys8573Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26049,
          "referenceAllele": "A",
          "start": 26048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000423061.6:c.25573A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396024.1:p.Lys8525Ter",
        "hgvsWellDefined": "ENSP00000396024.1:p.Lys8525_Leu8749delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "A",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000672154.1:c.1119A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1494,
          "referenceAllele": "A",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000672169.1:c.1494A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1361,
          "referenceAllele": "A",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000673173.1:c.1361A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1489,
          "referenceAllele": "A",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000673451.1:c.1489A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500189.1:p.Lys497Ter",
        "hgvsWellDefined": "ENSP00000500189.1:p.Lys497_Lys542delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetValArgCysValAsnSerGlySerLeuGlnLeuPheLeuAlaGlyLeuHisPheIleTyrArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25155,
          "referenceAllele": "A",
          "start": 25154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000341594.9:c.24502A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341887.6:p.Lys8168Ter",
        "hgvsWellDefined": "ENSP00000341887.6:p.Lys8168_Leu8392delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2465,
          "referenceAllele": "A",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000347037.9:n.2465A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS262323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2398,
          "referenceAllele": "A",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000354674.4:c.2251A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346701.4:p.Lys751Ter",
        "hgvsWellDefined": "ENSP00000346701.4:p.Lys751_Leu975delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4552,
          "referenceAllele": "A",
          "start": 4551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367251.7:c.4552A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356220.3:p.Lys1518Ter",
        "hgvsWellDefined": "ENSP00000356220.3:p.Lys1518_Phe1654delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26319,
          "referenceAllele": "A",
          "start": 26318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367255.9:c.25717A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356224.5:p.Lys8573Ter",
        "hgvsWellDefined": "ENSP00000356224.5:p.Lys8573_Leu8797delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9409,
          "referenceAllele": "A",
          "start": 9408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367256.9:n.9409A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3655,
          "referenceAllele": "A",
          "start": 3654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367257.8:c.3655A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356226.4:p.Lys1219Ter",
        "hgvsWellDefined": "ENSP00000356226.4:p.Lys1219_Phe1355delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9301,
          "referenceAllele": "A",
          "start": 9300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000409694.6:n.9301A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS281772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26010,
          "referenceAllele": "A",
          "start": 26009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000423061.5:c.25573A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396024.1:p.Lys8525Ter",
        "hgvsWellDefined": "ENSP00000396024.1:p.Lys8525_Leu8749delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2331,
          "referenceAllele": "A",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000460912.6:n.2331A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4739,
          "referenceAllele": "A",
          "start": 4738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000478916.5:n.4739A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2554,
          "referenceAllele": "A",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000536990.5:n.2554A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2342,
          "referenceAllele": "A",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000539504.5:c.2182A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441052.1:p.Lys728Ter",
        "hgvsWellDefined": "ENSP00000441052.1:p.Lys728_Leu952delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26010,
          "referenceAllele": "A",
          "start": 26009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.3:c.25573A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.1:p.Lys8525Ter",
        "hgvsWellDefined": "NP_149062.1:p.Lys8525_Leu8749delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573100790",
      "coordinates": [
        {
          "allele": "T",
          "end": 26319,
          "referenceAllele": "A",
          "start": 26318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_182961.3:c.25717A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_892006.3:p.Lys8573Ter",
        "hgvsWellDefined": "NP_892006.3:p.Lys8573_Leu8797delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26343,
          "referenceAllele": "A",
          "start": 26342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715407.1:c.25864A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715470.1:p.Lys8622Ter",
        "hgvsWellDefined": "XP_006715470.1:p.Lys8622_Leu8846delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26331,
          "referenceAllele": "A",
          "start": 26330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715408.1:c.25852A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715471.1:p.Lys8618Ter",
        "hgvsWellDefined": "XP_006715471.1:p.Lys8618_Leu8842delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26322,
          "referenceAllele": "A",
          "start": 26321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715409.1:c.25843A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715472.1:p.Lys8615Ter",
        "hgvsWellDefined": "XP_006715472.1:p.Lys8615_Leu8839delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26301,
          "referenceAllele": "A",
          "start": 26300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715410.1:c.25822A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715473.1:p.Lys8608Ter",
        "hgvsWellDefined": "XP_006715473.1:p.Lys8608_Leu8832delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26292,
          "referenceAllele": "A",
          "start": 26291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715411.1:c.25813A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715474.1:p.Lys8605Ter",
        "hgvsWellDefined": "XP_006715474.1:p.Lys8605_Leu8829delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26286,
          "referenceAllele": "A",
          "start": 26285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715412.1:c.25807A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715475.1:p.Lys8603Ter",
        "hgvsWellDefined": "XP_006715475.1:p.Lys8603_Leu8827delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26274,
          "referenceAllele": "A",
          "start": 26273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715413.1:c.25795A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715476.1:p.Lys8599Ter",
        "hgvsWellDefined": "XP_006715476.1:p.Lys8599_Leu8823delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26271,
          "referenceAllele": "A",
          "start": 26270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715414.1:c.25792A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715477.1:p.Lys8598Ter",
        "hgvsWellDefined": "XP_006715477.1:p.Lys8598_Leu8822delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26232,
          "referenceAllele": "A",
          "start": 26231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715415.1:c.25753A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715478.1:p.Lys8585Ter",
        "hgvsWellDefined": "XP_006715478.1:p.Lys8585_Leu8809delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26217,
          "referenceAllele": "A",
          "start": 26216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715416.1:c.25738A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715479.1:p.Lys8580Ter",
        "hgvsWellDefined": "XP_006715479.1:p.Lys8580_Leu8804delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26202,
          "referenceAllele": "A",
          "start": 26201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715417.1:c.25723A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715480.1:p.Lys8575Ter",
        "hgvsWellDefined": "XP_006715480.1:p.Lys8575_Leu8799delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26190,
          "referenceAllele": "A",
          "start": 26189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715420.1:c.25711A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715483.1:p.Lys8571Ter",
        "hgvsWellDefined": "XP_006715483.1:p.Lys8571_Leu8795delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26187,
          "referenceAllele": "A",
          "start": 26186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715421.1:c.25708A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715484.1:p.Lys8570Ter",
        "hgvsWellDefined": "XP_006715484.1:p.Lys8570_Leu8794delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26184,
          "referenceAllele": "A",
          "start": 26183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715422.1:c.25705A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715485.1:p.Lys8569Ter",
        "hgvsWellDefined": "XP_006715485.1:p.Lys8569_Leu8793delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26343,
          "referenceAllele": "A",
          "start": 26342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715423.1:c.25864A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715486.1:p.Lys8622Ter",
        "hgvsWellDefined": "XP_006715486.1:p.Lys8622_Phe8758delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26301,
          "referenceAllele": "A",
          "start": 26300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715424.1:c.25822A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715487.1:p.Lys8608Ter",
        "hgvsWellDefined": "XP_006715487.1:p.Lys8608_Phe8744delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26232,
          "referenceAllele": "A",
          "start": 26231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715425.1:c.25753A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715488.1:p.Lys8585Ter",
        "hgvsWellDefined": "XP_006715488.1:p.Lys8585_Phe8721delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26340,
          "referenceAllele": "A",
          "start": 26339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535641.1:c.25861A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533943.1:p.Lys8621Ter",
        "hgvsWellDefined": "XP_011533943.1:p.Lys8621_Leu8845delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26328,
          "referenceAllele": "A",
          "start": 26327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535642.1:c.25849A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533944.1:p.Lys8617Ter",
        "hgvsWellDefined": "XP_011533944.1:p.Lys8617_Leu8841delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26178,
          "referenceAllele": "A",
          "start": 26177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535643.1:c.25699A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533945.1:p.Lys8567Ter",
        "hgvsWellDefined": "XP_011533945.1:p.Lys8567_Leu8791delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24394,
          "referenceAllele": "A",
          "start": 24393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535644.1:c.24139A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533946.1:p.Lys8047Ter",
        "hgvsWellDefined": "XP_011533946.1:p.Lys8047_Leu8271delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23723,
          "referenceAllele": "A",
          "start": 23722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535645.1:c.23632A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533947.1:p.Lys7878Ter",
        "hgvsWellDefined": "XP_011533947.1:p.Lys7878_Leu8102delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19099,
          "referenceAllele": "A",
          "start": 19098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535647.1:c.19099A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533949.1:p.Lys6367Ter",
        "hgvsWellDefined": "XP_011533949.1:p.Lys6367_Leu6591delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402246",
      "coordinates": [
        {
          "allele": "T",
          "end": 2521,
          "referenceAllele": "A",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347701.1:c.2323A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334630.1:p.Lys775Ter",
        "hgvsWellDefined": "NP_001334630.1:p.Lys775_Phe911delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517802"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402727",
      "coordinates": [
        {
          "allele": "T",
          "end": 2334,
          "referenceAllele": "A",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347702.1:c.2251A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334631.1:p.Lys751Ter",
        "hgvsWellDefined": "NP_001334631.1:p.Lys751_Leu975delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26335,
          "referenceAllele": "A",
          "start": 26334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715408.2:c.25852A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715471.1:p.Lys8618Ter",
        "hgvsWellDefined": "XP_006715471.1:p.Lys8618_Leu8842delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26305,
          "referenceAllele": "A",
          "start": 26304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715410.2:c.25822A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715473.1:p.Lys8608Ter",
        "hgvsWellDefined": "XP_006715473.1:p.Lys8608_Leu8832delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26290,
          "referenceAllele": "A",
          "start": 26289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715412.2:c.25807A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715475.1:p.Lys8603Ter",
        "hgvsWellDefined": "XP_006715475.1:p.Lys8603_Leu8827delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26278,
          "referenceAllele": "A",
          "start": 26277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715413.2:c.25795A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715476.1:p.Lys8599Ter",
        "hgvsWellDefined": "XP_006715476.1:p.Lys8599_Leu8823delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26236,
          "referenceAllele": "A",
          "start": 26235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715415.2:c.25753A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715478.1:p.Lys8585Ter",
        "hgvsWellDefined": "XP_006715478.1:p.Lys8585_Leu8809delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26221,
          "referenceAllele": "A",
          "start": 26220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715416.2:c.25738A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715479.1:p.Lys8580Ter",
        "hgvsWellDefined": "XP_006715479.1:p.Lys8580_Leu8804delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26206,
          "referenceAllele": "A",
          "start": 26205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715417.2:c.25723A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715480.1:p.Lys8575Ter",
        "hgvsWellDefined": "XP_006715480.1:p.Lys8575_Leu8799delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26194,
          "referenceAllele": "A",
          "start": 26193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715420.2:c.25711A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715483.1:p.Lys8571Ter",
        "hgvsWellDefined": "XP_006715483.1:p.Lys8571_Leu8795delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26191,
          "referenceAllele": "A",
          "start": 26190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715421.2:c.25708A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715484.1:p.Lys8570Ter",
        "hgvsWellDefined": "XP_006715484.1:p.Lys8570_Leu8794delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26347,
          "referenceAllele": "A",
          "start": 26346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715423.2:c.25864A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715486.1:p.Lys8622Ter",
        "hgvsWellDefined": "XP_006715486.1:p.Lys8622_Phe8758delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26305,
          "referenceAllele": "A",
          "start": 26304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715424.2:c.25822A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715487.1:p.Lys8608Ter",
        "hgvsWellDefined": "XP_006715487.1:p.Lys8608_Phe8744delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26236,
          "referenceAllele": "A",
          "start": 26235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715425.2:c.25753A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715488.1:p.Lys8585Ter",
        "hgvsWellDefined": "XP_006715488.1:p.Lys8585_Phe8721delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26344,
          "referenceAllele": "A",
          "start": 26343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535641.2:c.25861A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533943.1:p.Lys8621Ter",
        "hgvsWellDefined": "XP_011533943.1:p.Lys8621_Leu8845delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26332,
          "referenceAllele": "A",
          "start": 26331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535642.2:c.25849A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533944.1:p.Lys8617Ter",
        "hgvsWellDefined": "XP_011533944.1:p.Lys8617_Leu8841delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23787,
          "referenceAllele": "A",
          "start": 23786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535645.2:c.23632A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533947.1:p.Lys7878Ter",
        "hgvsWellDefined": "XP_011533947.1:p.Lys7878_Leu8102delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26462,
          "referenceAllele": "A",
          "start": 26461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010608.1:c.25864A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866097.1:p.Lys8622Ter",
        "hgvsWellDefined": "XP_016866097.1:p.Lys8622_Leu8846delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26269,
          "referenceAllele": "A",
          "start": 26268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010609.1:c.25864A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866098.1:p.Lys8622Ter",
        "hgvsWellDefined": "XP_016866098.1:p.Lys8622_Leu8846delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26248,
          "referenceAllele": "A",
          "start": 26247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010610.1:c.25843A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866099.1:p.Lys8615Ter",
        "hgvsWellDefined": "XP_016866099.1:p.Lys8615_Leu8839delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26106,
          "referenceAllele": "A",
          "start": 26105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010611.2:c.25837A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866100.1:p.Lys8613Ter",
        "hgvsWellDefined": "XP_016866100.1:p.Lys8613_Leu8837delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25975,
          "referenceAllele": "A",
          "start": 25974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010612.1:c.25786A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866101.1:p.Lys8596Ter",
        "hgvsWellDefined": "XP_016866101.1:p.Lys8596_Leu8820delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26233,
          "referenceAllele": "A",
          "start": 26232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010613.1:c.25750A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866102.1:p.Lys8584Ter",
        "hgvsWellDefined": "XP_016866102.1:p.Lys8584_Leu8808delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26191,
          "referenceAllele": "A",
          "start": 26190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010614.1:c.25708A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866103.1:p.Lys8570Ter",
        "hgvsWellDefined": "XP_016866103.1:p.Lys8570_Leu8794delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26080,
          "referenceAllele": "A",
          "start": 26079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010615.1:c.25597A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866104.1:p.Lys8533Ter",
        "hgvsWellDefined": "XP_016866104.1:p.Lys8533_Leu8757delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26278,
          "referenceAllele": "A",
          "start": 26277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010616.1:c.25795A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866105.1:p.Lys8599Ter",
        "hgvsWellDefined": "XP_016866105.1:p.Lys8599_Phe8735delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26233,
          "referenceAllele": "A",
          "start": 26232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010617.1:c.25750A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866106.1:p.Lys8584Ter",
        "hgvsWellDefined": "XP_016866106.1:p.Lys8584_Phe8720delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26221,
          "referenceAllele": "A",
          "start": 26220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010618.1:c.25738A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866107.1:p.Lys8580Ter",
        "hgvsWellDefined": "XP_016866107.1:p.Lys8580_Phe8716delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24426,
          "referenceAllele": "A",
          "start": 24425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010619.1:c.24139A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866108.1:p.Lys8047Ter",
        "hgvsWellDefined": "XP_016866108.1:p.Lys8047_Leu8271delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564640"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573100790",
      "coordinates": [
        {
          "allele": "T",
          "end": 26282,
          "referenceAllele": "A",
          "start": 26281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_182961.4:c.25717A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_892006.3:p.Lys8573Ter",
        "hgvsWellDefined": "NP_892006.3:p.Lys8573_Leu8797delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673038",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.25717A>T"
          },
          "RefSeq": {
            "hgvs": "NM_182961.4:c.25717A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Lys8573Ter"
          },
          "RefSeq": {
            "hgvs": "NP_892006.3:p.Lys8573Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402246",
      "coordinates": [
        {
          "allele": "T",
          "end": 2554,
          "referenceAllele": "A",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347701.2:c.2323A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334630.1:p.Lys775Ter",
        "hgvsWellDefined": "NP_001334630.1:p.Lys775_Phe911delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402727",
      "coordinates": [
        {
          "allele": "T",
          "end": 2359,
          "referenceAllele": "A",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347702.2:c.2251A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334631.1:p.Lys751Ter",
        "hgvsWellDefined": "NP_001334631.1:p.Lys751_Leu975delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354674.5:c.2251A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001347702.2:c.2251A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346701.4:p.Lys751Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001334631.1:p.Lys751Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830089831",
      "coordinates": [
        {
          "allele": "T",
          "end": 26049,
          "referenceAllele": "A",
          "start": 26048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.5:c.25573A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.2:p.Lys8525Ter",
        "hgvsWellDefined": "NP_149062.2:p.Lys8525_Leu8749delinsAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728908"
    }
  ],
  "type": "nucleotide"
}