{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA011108",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.9067+12C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53004[alleleid]",
        "alleleId": 53004,
        "preferredName": "NM_001035.3(RYR2):c.9067+12C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43835",
        "RCV": [
          "RCV000036802",
          "RCV001101435",
          "RCV001101436",
          "RCV001529841"
        ],
        "variationId": 43835
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237850816-C-T",
        "id": "1-237850816-C-T",
        "variant": "1:237850816 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237850816C>T?assembly=hg19",
        "id": "chr1:g.237850816C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237687516C>T?assembly=hg38",
        "id": "chr1:g.237687516C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/112365440",
        "rs": 112365440
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237850816-C-T?dataset=gnomad_r2_1",
        "id": "1-237850816-C-T",
        "variant": "1:237850816 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237687516-C-T?dataset=gnomad_r3",
        "id": "1-237687516-C-T",
        "variant": "1:237687516 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237687516-C-T?dataset=gnomad_r4",
        "id": "1-237687516-C-T",
        "variant": "1:237687516 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237687516,
          "referenceAllele": "C",
          "start": 237687515
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237687516C>T",
        "CM000663.2:g.237687516C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237850816,
          "referenceAllele": "C",
          "start": 237850815
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237850816C>T",
        "CM000663.1:g.237850816C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 235917439,
          "referenceAllele": "C",
          "start": 235917438
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235917439C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650115,
          "referenceAllele": "C",
          "start": 650114
        }
      ],
      "hgvs": [
        "NG_008799.2:g.650115C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650333,
          "referenceAllele": "C",
          "start": 650332
        }
      ],
      "hgvs": [
        "NG_008799.3:g.650333C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9290,
          "endIntronDirection": "+",
          "endIntronOffset": 6939,
          "referenceAllele": "C",
          "start": 9290,
          "startIntronDirection": "+",
          "startIntronOffset": 6938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*102+6939C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*102+6939C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9405,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9405,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.9067+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:n.9067+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9405,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9405,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.9067+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:n.9067+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1256,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1256,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.1256+12C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9405,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9405,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.9067+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.9067+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.9067+12C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.9067+12C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.9067+12C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.9067+12C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1256,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1256,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.1256+12C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9019,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9019,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.9019+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:n.9019+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9384,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9384,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.9067+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.9067+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 6939,
          "referenceAllele": "C",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 6938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.205+6939C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9187,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9187,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.9067+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.9067+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9338,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9338,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.9097+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.9097+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9335,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9335,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.9094+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.9094+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9337,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9337,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.9097+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.9097+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9303,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9303,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.9067+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.9067+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9338,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9338,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.9097+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.9097+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9338,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9338,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.9097+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.9097+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9099,
          "endIntronDirection": "-",
          "endIntronOffset": 11448,
          "referenceAllele": "C",
          "start": 9099,
          "startIntronDirection": "-",
          "startIntronOffset": 11449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.8861-11449C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.8861-11449C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9304,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9304,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.9064+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.9064+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9328,
          "endIntronDirection": "+",
          "endIntronOffset": 6939,
          "referenceAllele": "C",
          "start": 9328,
          "startIntronDirection": "+",
          "startIntronOffset": 6938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.9328+6939C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9411,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9411,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.9097+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.9097+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9408,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9408,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.9094+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.9094+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9411,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9411,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.9097+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.9097+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9381,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9381,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.9067+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.9067+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9411,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9411,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.9097+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.9097+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9411,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9411,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.9097+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.9097+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9174,
          "endIntronDirection": "-",
          "endIntronOffset": 11448,
          "referenceAllele": "C",
          "start": 9174,
          "startIntronDirection": "-",
          "startIntronOffset": 11449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.8861-11449C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.8861-11449C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9378,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9378,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.9064+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.9064+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9390,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9390,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.9076+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:n.9076+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9361,
          "endIntronDirection": "+",
          "endIntronOffset": 6939,
          "referenceAllele": "C",
          "start": 9361,
          "startIntronDirection": "+",
          "startIntronOffset": 6938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.9361+6939C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9405,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 9405,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.9067+12C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.9067+12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.9067+12C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.9067+12C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.9067+12C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.9067+12C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}