{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6910963",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=946035",
        "active": true,
        "id": "COSM946035"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1224566",
        "active": true,
        "id": "COSM1224566"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=796921[alleleid]",
        "alleleId": 796921,
        "preferredName": "NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/806986",
        "RCV": [
          "RCV000995035",
          "RCV001115057",
          "RCV001242408",
          "RCV001847126"
        ],
        "variationId": 806986
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-23910865-C-T",
        "id": "13-23910865-C-T",
        "variant": "13:23910865 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23910865C>T?assembly=hg19",
        "id": "chr13:g.23910865C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23336726C>T?assembly=hg38",
        "id": "chr13:g.23336726C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762896797",
        "rs": 762896797
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23910865-C-T?dataset=gnomad_r2_1",
        "id": "13-23910865-C-T",
        "variant": "13:23910865 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23336726-C-T?dataset=gnomad_r3",
        "id": "13-23336726-C-T",
        "variant": "13:23336726 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23336726-C-T?dataset=gnomad_r4",
        "id": "13-23336726-C-T",
        "variant": "13:23336726 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 23336726,
          "referenceAllele": "C",
          "start": 23336725
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23336726C>T",
        "CM000675.2:g.23336726C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 23910865,
          "referenceAllele": "C",
          "start": 23910864
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23910865C>T",
        "CM000675.1:g.23910865C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 22808865,
          "referenceAllele": "C",
          "start": 22808864
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22808865C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 101977,
          "referenceAllele": "G",
          "start": 101976
        }
      ],
      "hgvs": [
        "NG_012342.1:g.101977G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 17059,
          "referenceAllele": "G",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 17058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2185+17059G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2185+17059G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7816,
          "referenceAllele": "G",
          "start": 7815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.7177G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Glu2393Lys",
        "hgvsWellDefined": "ENSP00000507173.1:p.Glu2393Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 17059,
          "referenceAllele": "G",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 17058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+17059G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+17059G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6574,
          "endIntronDirection": "+",
          "endIntronOffset": 696,
          "referenceAllele": "G",
          "start": 6574,
          "startIntronDirection": "+",
          "startIntronOffset": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.6445+696G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:n.6445+696G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 7241,
          "referenceAllele": "G",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-7242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-7242G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2930,
          "endIntronDirection": "+",
          "endIntronOffset": 4859,
          "referenceAllele": "G",
          "start": 2930,
          "startIntronDirection": "+",
          "startIntronOffset": 4858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2291+4859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2291+4859G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2957,
          "endIntronDirection": "+",
          "endIntronOffset": 4859,
          "referenceAllele": "G",
          "start": 2957,
          "startIntronDirection": "+",
          "startIntronOffset": 4858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2318+4859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2318+4859G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 7241,
          "referenceAllele": "G",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-7242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-7242G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 7241,
          "referenceAllele": "G",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-7242G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 15051,
          "referenceAllele": "G",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 15052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-15052G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-15052G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 7241,
          "referenceAllele": "G",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-7242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-7242G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 14081,
          "referenceAllele": "G",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 14082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-14082G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-14082G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7739,
          "referenceAllele": "G",
          "start": 7738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.7150G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Glu2384Lys",
        "hgvsWellDefined": "ENSP00000371729.3:p.Glu2384Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.7150G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.7150G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Glu2384Lys"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Glu2384Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 7241,
          "referenceAllele": "G",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-7242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-7242G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3019,
          "endIntronDirection": "+",
          "endIntronOffset": 4719,
          "referenceAllele": "G",
          "start": 3019,
          "startIntronDirection": "+",
          "startIntronOffset": 4718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2431+4719G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2431+4719G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7424,
          "referenceAllele": "G",
          "start": 7423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.7150G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Glu2384Lys",
        "hgvsWellDefined": "ENSP00000371729.3:p.Glu2384Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7765,
          "referenceAllele": "G",
          "start": 7764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.7150G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Glu2384Lys",
        "hgvsWellDefined": "ENSP00000371735.3:p.Glu2384Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7234,
          "referenceAllele": "G",
          "start": 7233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.4900G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.Glu1634Lys",
        "hgvsWellDefined": "ENSP00000385844.1:p.Glu1634Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 7241,
          "referenceAllele": "G",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-7242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-7242G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2129,
          "endIntronDirection": "+",
          "endIntronOffset": 4719,
          "referenceAllele": "G",
          "start": 2129,
          "startIntronDirection": "+",
          "startIntronOffset": 4718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2129+4719G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826577453",
      "coordinates": [
        {
          "allele": "A",
          "end": 7234,
          "referenceAllele": "G",
          "start": 7233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.6709G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Glu2237Lys",
        "hgvsWellDefined": "NP_001264984.1:p.Glu2237Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916014085",
      "coordinates": [
        {
          "allele": "A",
          "end": 7765,
          "referenceAllele": "G",
          "start": 7764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.7150G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Glu2384Lys",
        "hgvsWellDefined": "NP_055178.3:p.Glu2384Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7792,
          "referenceAllele": "G",
          "start": 7791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.7177G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Glu2393Lys",
        "hgvsWellDefined": "XP_005266395.1:p.Glu2393Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7219,
          "referenceAllele": "G",
          "start": 7218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.7201G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Glu2401Lys",
        "hgvsWellDefined": "XP_011533340.1:p.Glu2401Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7289,
          "referenceAllele": "G",
          "start": 7288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.7168G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Glu2390Lys",
        "hgvsWellDefined": "XP_011533341.1:p.Glu2390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7792,
          "referenceAllele": "G",
          "start": 7791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.7177G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Glu2393Lys",
        "hgvsWellDefined": "XP_005266395.1:p.Glu2393Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7400,
          "referenceAllele": "G",
          "start": 7399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.7168G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Glu2390Lys",
        "hgvsWellDefined": "XP_011533341.1:p.Glu2390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7373,
          "referenceAllele": "G",
          "start": 7372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.7141G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Glu2381Lys",
        "hgvsWellDefined": "XP_016876028.1:p.Glu2381Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7816,
          "referenceAllele": "G",
          "start": 7815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.7177G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Glu2393Lys",
        "hgvsWellDefined": "XP_024305105.1:p.Glu2393Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916014085",
      "coordinates": [
        {
          "allele": "A",
          "end": 7739,
          "referenceAllele": "G",
          "start": 7738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.7150G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Glu2384Lys",
        "hgvsWellDefined": "NP_055178.3:p.Glu2384Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.7150G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.7150G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Glu2384Lys"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Glu2384Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826577453",
      "coordinates": [
        {
          "allele": "A",
          "end": 7199,
          "referenceAllele": "G",
          "start": 7198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.6709G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Glu2237Lys",
        "hgvsWellDefined": "NP_001264984.1:p.Glu2237Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}