{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6911051",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=319247[alleleid]",
        "alleleId": 319247,
        "preferredName": "NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/311531",
        "RCV": [
          "RCV000282675",
          "RCV002520866",
          "RCV000691162"
        ],
        "variationId": 311531
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-23911381-T-C",
        "id": "13-23911381-T-C",
        "variant": "13:23911381 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23911381T>C?assembly=hg19",
        "id": "chr13:g.23911381T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23337242T>C?assembly=hg38",
        "id": "chr13:g.23337242T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/556248979",
        "rs": 556248979
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23911381-T-C?dataset=gnomad_r2_1",
        "id": "13-23911381-T-C",
        "variant": "13:23911381 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23337242-T-C?dataset=gnomad_r3",
        "id": "13-23337242-T-C",
        "variant": "13:23337242 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23337242-T-C?dataset=gnomad_r4",
        "id": "13-23337242-T-C",
        "variant": "13:23337242 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 23337242,
          "referenceAllele": "T",
          "start": 23337241
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23337242T>C",
        "CM000675.2:g.23337242T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 23911381,
          "referenceAllele": "T",
          "start": 23911380
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23911381T>C",
        "CM000675.1:g.23911381T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 22809381,
          "referenceAllele": "T",
          "start": 22809380
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22809381T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101461,
          "referenceAllele": "A",
          "start": 101460
        }
      ],
      "hgvs": [
        "NG_012342.1:g.101461A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 16543,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 16542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2185+16543A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2185+16543A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7300,
          "referenceAllele": "A",
          "start": 7299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.6661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Thr2221Ala",
        "hgvsWellDefined": "ENSP00000507173.1:p.Thr2221Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 16543,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 16542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+16543A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+16543A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6574,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 6574,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.6445+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:n.6445+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 7757,
          "referenceAllele": "A",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 7758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-7758A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-7758A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2930,
          "endIntronDirection": "+",
          "endIntronOffset": 4343,
          "referenceAllele": "A",
          "start": 2930,
          "startIntronDirection": "+",
          "startIntronOffset": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2291+4343A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2291+4343A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2957,
          "endIntronDirection": "+",
          "endIntronOffset": 4343,
          "referenceAllele": "A",
          "start": 2957,
          "startIntronDirection": "+",
          "startIntronOffset": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2318+4343A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2318+4343A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 7757,
          "referenceAllele": "A",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 7758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-7758A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-7758A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 7757,
          "referenceAllele": "A",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 7758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-7758A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 15567,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 15568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-15568A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-15568A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 7757,
          "referenceAllele": "A",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 7758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-7758A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-7758A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 14597,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 14598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-14598A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-14598A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7223,
          "referenceAllele": "A",
          "start": 7222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.6634A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Thr2212Ala",
        "hgvsWellDefined": "ENSP00000371729.3:p.Thr2212Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.6634A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.6634A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Thr2212Ala"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Thr2212Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 7757,
          "referenceAllele": "A",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 7758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-7758A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-7758A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3019,
          "endIntronDirection": "+",
          "endIntronOffset": 4203,
          "referenceAllele": "A",
          "start": 3019,
          "startIntronDirection": "+",
          "startIntronOffset": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2431+4203A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2431+4203A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6908,
          "referenceAllele": "A",
          "start": 6907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.6634A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Thr2212Ala",
        "hgvsWellDefined": "ENSP00000371729.3:p.Thr2212Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7249,
          "referenceAllele": "A",
          "start": 7248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.6634A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Thr2212Ala",
        "hgvsWellDefined": "ENSP00000371735.3:p.Thr2212Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6718,
          "referenceAllele": "A",
          "start": 6717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.4384A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.Thr1462Ala",
        "hgvsWellDefined": "ENSP00000385844.1:p.Thr1462Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 7757,
          "referenceAllele": "A",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 7758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-7758A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-7758A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2129,
          "endIntronDirection": "+",
          "endIntronOffset": 4203,
          "referenceAllele": "A",
          "start": 2129,
          "startIntronDirection": "+",
          "startIntronOffset": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2129+4203A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826577327",
      "coordinates": [
        {
          "allele": "G",
          "end": 6718,
          "referenceAllele": "A",
          "start": 6717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.6193A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Thr2065Ala",
        "hgvsWellDefined": "NP_001264984.1:p.Thr2065Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645437490",
      "coordinates": [
        {
          "allele": "G",
          "end": 7249,
          "referenceAllele": "A",
          "start": 7248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.6634A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Thr2212Ala",
        "hgvsWellDefined": "NP_055178.3:p.Thr2212Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7276,
          "referenceAllele": "A",
          "start": 7275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.6661A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Thr2221Ala",
        "hgvsWellDefined": "XP_005266395.1:p.Thr2221Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6703,
          "referenceAllele": "A",
          "start": 6702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.6685A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Thr2229Ala",
        "hgvsWellDefined": "XP_011533340.1:p.Thr2229Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6773,
          "referenceAllele": "A",
          "start": 6772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.6652A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Thr2218Ala",
        "hgvsWellDefined": "XP_011533341.1:p.Thr2218Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7276,
          "referenceAllele": "A",
          "start": 7275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.6661A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Thr2221Ala",
        "hgvsWellDefined": "XP_005266395.1:p.Thr2221Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6884,
          "referenceAllele": "A",
          "start": 6883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.6652A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Thr2218Ala",
        "hgvsWellDefined": "XP_011533341.1:p.Thr2218Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6857,
          "referenceAllele": "A",
          "start": 6856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.6625A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Thr2209Ala",
        "hgvsWellDefined": "XP_016876028.1:p.Thr2209Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7300,
          "referenceAllele": "A",
          "start": 7299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.6661A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Thr2221Ala",
        "hgvsWellDefined": "XP_024305105.1:p.Thr2221Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645437490",
      "coordinates": [
        {
          "allele": "G",
          "end": 7223,
          "referenceAllele": "A",
          "start": 7222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.6634A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Thr2212Ala",
        "hgvsWellDefined": "NP_055178.3:p.Thr2212Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.6634A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.6634A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Thr2212Ala"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Thr2212Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826577327",
      "coordinates": [
        {
          "allele": "G",
          "end": 6683,
          "referenceAllele": "A",
          "start": 6682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.6193A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Thr2065Ala",
        "hgvsWellDefined": "NP_001264984.1:p.Thr2065Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}