{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4052961",
  "communityStandardTitle": [
    "NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=301862[alleleid]",
        "alleleId": 301862,
        "preferredName": "NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/355810",
        "RCV": [
          "RCV000307253",
          "RCV000396514"
        ],
        "variationId": 355810
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-152464807-C-T",
        "id": "6-152464807-C-T",
        "variant": "6:152464807 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.152464807C>T?assembly=hg19",
        "id": "chr6:g.152464807C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.152143672C>T?assembly=hg38",
        "id": "chr6:g.152143672C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766534980",
        "rs": 766534980
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-152464807-C-T?dataset=gnomad_r2_1",
        "id": "6-152464807-C-T",
        "variant": "6:152464807 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-152143672-C-T?dataset=gnomad_r3",
        "id": "6-152143672-C-T",
        "variant": "6:152143672 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-152143672-C-T?dataset=gnomad_r4",
        "id": "6-152143672-C-T",
        "variant": "6:152143672 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 152143672,
          "referenceAllele": "C",
          "start": 152143671
        }
      ],
      "hgvs": [
        "NC_000006.12:g.152143672C>T",
        "CM000668.2:g.152143672C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 152464807,
          "referenceAllele": "C",
          "start": 152464806
        }
      ],
      "hgvs": [
        "NC_000006.11:g.152464807C>T",
        "CM000668.1:g.152464807C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 152506500,
          "referenceAllele": "C",
          "start": 152506499
        }
      ],
      "hgvs": [
        "NC_000006.10:g.152506500C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498728,
          "referenceAllele": "G",
          "start": 498727
        }
      ],
      "hgvs": [
        "NG_012855.1:g.498728G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498728,
          "referenceAllele": "G",
          "start": 498727
        }
      ],
      "hgvs": [
        "NG_012855.2:g.498728G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673620"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000354674.5:c.1604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346701.4:p.Arg535His",
        "hgvsWellDefined": "ENSP00000346701.4:p.Arg535His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354674.5:c.1604G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001347702.2:c.1604G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346701.4:p.Arg535His"
          },
          "RefSeq": {
            "hgvs": "NP_001334631.1:p.Arg535His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25635,
          "referenceAllele": "G",
          "start": 25634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367255.10:c.25070G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356224.5:p.Arg8357His",
        "hgvsWellDefined": "ENSP00000356224.5:p.Arg8357His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.25070G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182961.4:c.25070G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Arg8357His"
          },
          "RefSeq": {
            "hgvs": "NP_892006.3:p.Arg8357His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25402,
          "referenceAllele": "G",
          "start": 25401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000423061.6:c.24926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396024.1:p.Arg8309His",
        "hgvsWellDefined": "ENSP00000396024.1:p.Arg8309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000672154.1:c.472G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000672169.1:c.805G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "endIntronDirection": "-",
          "endIntronOffset": 3510,
          "referenceAllele": "G",
          "start": 890,
          "startIntronDirection": "-",
          "startIntronOffset": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000673173.1:c.891-3511G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "referenceAllele": "G",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000673451.1:c.842G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500189.1:p.Arg281His",
        "hgvsWellDefined": "ENSP00000500189.1:p.Arg281His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24508,
          "referenceAllele": "G",
          "start": 24507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000341594.9:c.23855G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341887.6:p.Arg7952His",
        "hgvsWellDefined": "ENSP00000341887.6:p.Arg7952His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1818,
          "referenceAllele": "G",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000347037.9:n.1818G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS262323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1751,
          "referenceAllele": "G",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000354674.4:c.1604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346701.4:p.Arg535His",
        "hgvsWellDefined": "ENSP00000346701.4:p.Arg535His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3905,
          "referenceAllele": "G",
          "start": 3904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367251.7:c.3905G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356220.3:p.Arg1302His",
        "hgvsWellDefined": "ENSP00000356220.3:p.Arg1302His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25672,
          "referenceAllele": "G",
          "start": 25671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367255.9:c.25070G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356224.5:p.Arg8357His",
        "hgvsWellDefined": "ENSP00000356224.5:p.Arg8357His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8762,
          "referenceAllele": "G",
          "start": 8761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367256.9:n.8762G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266293"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3008,
          "referenceAllele": "G",
          "start": 3007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000367257.8:c.3008G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356226.4:p.Arg1003His",
        "hgvsWellDefined": "ENSP00000356226.4:p.Arg1003His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8654,
          "referenceAllele": "G",
          "start": 8653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000409694.6:n.8654G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS281772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25363,
          "referenceAllele": "G",
          "start": 25362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000423061.5:c.24926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396024.1:p.Arg8309His",
        "hgvsWellDefined": "ENSP00000396024.1:p.Arg8309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "referenceAllele": "G",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000460912.6:n.1684G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4092,
          "referenceAllele": "G",
          "start": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000478916.5:n.4092G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000536990.5:n.1907G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1695,
          "referenceAllele": "G",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "ENST00000539504.5:c.1535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441052.1:p.Arg512His",
        "hgvsWellDefined": "ENSP00000441052.1:p.Arg512His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25363,
          "referenceAllele": "G",
          "start": 25362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.3:c.24926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.1:p.Arg8309His",
        "hgvsWellDefined": "NP_149062.1:p.Arg8309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483110",
      "coordinates": [
        {
          "allele": "A",
          "end": 25672,
          "referenceAllele": "G",
          "start": 25671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_182961.3:c.25070G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_892006.3:p.Arg8357His",
        "hgvsWellDefined": "NP_892006.3:p.Arg8357His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25654,
          "referenceAllele": "G",
          "start": 25653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715407.1:c.25175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715470.1:p.Arg8392His",
        "hgvsWellDefined": "XP_006715470.1:p.Arg8392His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25642,
          "referenceAllele": "G",
          "start": 25641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715408.1:c.25163G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715471.1:p.Arg8388His",
        "hgvsWellDefined": "XP_006715471.1:p.Arg8388His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25633,
          "referenceAllele": "G",
          "start": 25632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715409.1:c.25154G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715472.1:p.Arg8385His",
        "hgvsWellDefined": "XP_006715472.1:p.Arg8385His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25654,
          "referenceAllele": "G",
          "start": 25653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715410.1:c.25175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715473.1:p.Arg8392His",
        "hgvsWellDefined": "XP_006715473.1:p.Arg8392His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25603,
          "referenceAllele": "G",
          "start": 25602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715411.1:c.25124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715474.1:p.Arg8375His",
        "hgvsWellDefined": "XP_006715474.1:p.Arg8375His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25639,
          "referenceAllele": "G",
          "start": 25638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715412.1:c.25160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715475.1:p.Arg8387His",
        "hgvsWellDefined": "XP_006715475.1:p.Arg8387His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25585,
          "referenceAllele": "G",
          "start": 25584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715413.1:c.25106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715476.1:p.Arg8369His",
        "hgvsWellDefined": "XP_006715476.1:p.Arg8369His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25582,
          "referenceAllele": "G",
          "start": 25581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715414.1:c.25103G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715477.1:p.Arg8368His",
        "hgvsWellDefined": "XP_006715477.1:p.Arg8368His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25585,
          "referenceAllele": "G",
          "start": 25584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715415.1:c.25106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715478.1:p.Arg8369His",
        "hgvsWellDefined": "XP_006715478.1:p.Arg8369His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25570,
          "referenceAllele": "G",
          "start": 25569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715416.1:c.25091G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715479.1:p.Arg8364His",
        "hgvsWellDefined": "XP_006715479.1:p.Arg8364His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25513,
          "referenceAllele": "G",
          "start": 25512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715417.1:c.25034G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715480.1:p.Arg8345His",
        "hgvsWellDefined": "XP_006715480.1:p.Arg8345His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25501,
          "referenceAllele": "G",
          "start": 25500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715420.1:c.25022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715483.1:p.Arg8341His",
        "hgvsWellDefined": "XP_006715483.1:p.Arg8341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25498,
          "referenceAllele": "G",
          "start": 25497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715421.1:c.25019G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715484.1:p.Arg8340His",
        "hgvsWellDefined": "XP_006715484.1:p.Arg8340His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25495,
          "referenceAllele": "G",
          "start": 25494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715422.1:c.25016G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715485.1:p.Arg8339His",
        "hgvsWellDefined": "XP_006715485.1:p.Arg8339His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25654,
          "referenceAllele": "G",
          "start": 25653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715423.1:c.25175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715486.1:p.Arg8392His",
        "hgvsWellDefined": "XP_006715486.1:p.Arg8392His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25654,
          "referenceAllele": "G",
          "start": 25653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715424.1:c.25175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715487.1:p.Arg8392His",
        "hgvsWellDefined": "XP_006715487.1:p.Arg8392His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25585,
          "referenceAllele": "G",
          "start": 25584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715425.1:c.25106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715488.1:p.Arg8369His",
        "hgvsWellDefined": "XP_006715488.1:p.Arg8369His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25651,
          "referenceAllele": "G",
          "start": 25650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535641.1:c.25172G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533943.1:p.Arg8391His",
        "hgvsWellDefined": "XP_011533943.1:p.Arg8391His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25639,
          "referenceAllele": "G",
          "start": 25638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535642.1:c.25160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533944.1:p.Arg8387His",
        "hgvsWellDefined": "XP_011533944.1:p.Arg8387His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25489,
          "referenceAllele": "G",
          "start": 25488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535643.1:c.25010G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533945.1:p.Arg8337His",
        "hgvsWellDefined": "XP_011533945.1:p.Arg8337His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23705,
          "referenceAllele": "G",
          "start": 23704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535644.1:c.23450G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533946.1:p.Arg7817His",
        "hgvsWellDefined": "XP_011533946.1:p.Arg7817His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23034,
          "referenceAllele": "G",
          "start": 23033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535645.1:c.22943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533947.1:p.Arg7648His",
        "hgvsWellDefined": "XP_011533947.1:p.Arg7648His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18410,
          "referenceAllele": "G",
          "start": 18409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535647.1:c.18410G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533949.1:p.Arg6137His",
        "hgvsWellDefined": "XP_011533949.1:p.Arg6137His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402128",
      "coordinates": [
        {
          "allele": "A",
          "end": 1874,
          "referenceAllele": "G",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347701.1:c.1676G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334630.1:p.Arg559His",
        "hgvsWellDefined": "NP_001334630.1:p.Arg559His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517802"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402610",
      "coordinates": [
        {
          "allele": "A",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347702.1:c.1604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334631.1:p.Arg535His",
        "hgvsWellDefined": "NP_001334631.1:p.Arg535His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25646,
          "referenceAllele": "G",
          "start": 25645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715408.2:c.25163G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715471.1:p.Arg8388His",
        "hgvsWellDefined": "XP_006715471.1:p.Arg8388His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25658,
          "referenceAllele": "G",
          "start": 25657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715410.2:c.25175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715473.1:p.Arg8392His",
        "hgvsWellDefined": "XP_006715473.1:p.Arg8392His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25643,
          "referenceAllele": "G",
          "start": 25642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715412.2:c.25160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715475.1:p.Arg8387His",
        "hgvsWellDefined": "XP_006715475.1:p.Arg8387His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25589,
          "referenceAllele": "G",
          "start": 25588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715413.2:c.25106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715476.1:p.Arg8369His",
        "hgvsWellDefined": "XP_006715476.1:p.Arg8369His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25589,
          "referenceAllele": "G",
          "start": 25588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715415.2:c.25106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715478.1:p.Arg8369His",
        "hgvsWellDefined": "XP_006715478.1:p.Arg8369His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25574,
          "referenceAllele": "G",
          "start": 25573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715416.2:c.25091G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715479.1:p.Arg8364His",
        "hgvsWellDefined": "XP_006715479.1:p.Arg8364His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25517,
          "referenceAllele": "G",
          "start": 25516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715417.2:c.25034G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715480.1:p.Arg8345His",
        "hgvsWellDefined": "XP_006715480.1:p.Arg8345His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25505,
          "referenceAllele": "G",
          "start": 25504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715420.2:c.25022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715483.1:p.Arg8341His",
        "hgvsWellDefined": "XP_006715483.1:p.Arg8341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25502,
          "referenceAllele": "G",
          "start": 25501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715421.2:c.25019G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715484.1:p.Arg8340His",
        "hgvsWellDefined": "XP_006715484.1:p.Arg8340His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25658,
          "referenceAllele": "G",
          "start": 25657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715423.2:c.25175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715486.1:p.Arg8392His",
        "hgvsWellDefined": "XP_006715486.1:p.Arg8392His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25658,
          "referenceAllele": "G",
          "start": 25657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715424.2:c.25175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715487.1:p.Arg8392His",
        "hgvsWellDefined": "XP_006715487.1:p.Arg8392His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25589,
          "referenceAllele": "G",
          "start": 25588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_006715425.2:c.25106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715488.1:p.Arg8369His",
        "hgvsWellDefined": "XP_006715488.1:p.Arg8369His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25655,
          "referenceAllele": "G",
          "start": 25654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535641.2:c.25172G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533943.1:p.Arg8391His",
        "hgvsWellDefined": "XP_011533943.1:p.Arg8391His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25643,
          "referenceAllele": "G",
          "start": 25642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535642.2:c.25160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533944.1:p.Arg8387His",
        "hgvsWellDefined": "XP_011533944.1:p.Arg8387His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23098,
          "referenceAllele": "G",
          "start": 23097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_011535645.2:c.22943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533947.1:p.Arg7648His",
        "hgvsWellDefined": "XP_011533947.1:p.Arg7648His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25773,
          "referenceAllele": "G",
          "start": 25772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010608.1:c.25175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866097.1:p.Arg8392His",
        "hgvsWellDefined": "XP_016866097.1:p.Arg8392His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25580,
          "referenceAllele": "G",
          "start": 25579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010609.1:c.25175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866098.1:p.Arg8392His",
        "hgvsWellDefined": "XP_016866098.1:p.Arg8392His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25559,
          "referenceAllele": "G",
          "start": 25558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010610.1:c.25154G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866099.1:p.Arg8385His",
        "hgvsWellDefined": "XP_016866099.1:p.Arg8385His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25417,
          "referenceAllele": "G",
          "start": 25416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010611.2:c.25148G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866100.1:p.Arg8383His",
        "hgvsWellDefined": "XP_016866100.1:p.Arg8383His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25286,
          "referenceAllele": "G",
          "start": 25285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010612.1:c.25097G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866101.1:p.Arg8366His",
        "hgvsWellDefined": "XP_016866101.1:p.Arg8366His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25586,
          "referenceAllele": "G",
          "start": 25585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010613.1:c.25103G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866102.1:p.Arg8368His",
        "hgvsWellDefined": "XP_016866102.1:p.Arg8368His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25502,
          "referenceAllele": "G",
          "start": 25501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010614.1:c.25019G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866103.1:p.Arg8340His",
        "hgvsWellDefined": "XP_016866103.1:p.Arg8340His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25433,
          "referenceAllele": "G",
          "start": 25432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010615.1:c.24950G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866104.1:p.Arg8317His",
        "hgvsWellDefined": "XP_016866104.1:p.Arg8317His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25589,
          "referenceAllele": "G",
          "start": 25588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010616.1:c.25106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866105.1:p.Arg8369His",
        "hgvsWellDefined": "XP_016866105.1:p.Arg8369His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25586,
          "referenceAllele": "G",
          "start": 25585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010617.1:c.25103G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866106.1:p.Arg8368His",
        "hgvsWellDefined": "XP_016866106.1:p.Arg8368His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25574,
          "referenceAllele": "G",
          "start": 25573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010618.1:c.25091G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866107.1:p.Arg8364His",
        "hgvsWellDefined": "XP_016866107.1:p.Arg8364His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23737,
          "referenceAllele": "G",
          "start": 23736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010619.1:c.23450G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866108.1:p.Arg7817His",
        "hgvsWellDefined": "XP_016866108.1:p.Arg7817His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564640"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483110",
      "coordinates": [
        {
          "allele": "A",
          "end": 25635,
          "referenceAllele": "G",
          "start": 25634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_182961.4:c.25070G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_892006.3:p.Arg8357His",
        "hgvsWellDefined": "NP_892006.3:p.Arg8357His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673038",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.25070G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182961.4:c.25070G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Arg8357His"
          },
          "RefSeq": {
            "hgvs": "NP_892006.3:p.Arg8357His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402128",
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347701.2:c.1676G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334630.1:p.Arg559His",
        "hgvsWellDefined": "NP_001334630.1:p.Arg559His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402610",
      "coordinates": [
        {
          "allele": "A",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347702.2:c.1604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334631.1:p.Arg535His",
        "hgvsWellDefined": "NP_001334631.1:p.Arg535His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354674.5:c.1604G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001347702.2:c.1604G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346701.4:p.Arg535His"
          },
          "RefSeq": {
            "hgvs": "NP_001334631.1:p.Arg535His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830089637",
      "coordinates": [
        {
          "allele": "A",
          "end": 25402,
          "referenceAllele": "G",
          "start": 25401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.5:c.24926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.2:p.Arg8309His",
        "hgvsWellDefined": "NP_149062.2:p.Arg8309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728908"
    }
  ],
  "type": "nucleotide"
}