{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA010897",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.8209-4T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178457[alleleid]",
        "alleleId": 178457,
        "preferredName": "NM_001035.3(RYR2):c.8209-4T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180498",
        "RCV": [
          "RCV000157461",
          "RCV000252027",
          "RCV000769798",
          "RCV000929242",
          "RCV002515053"
        ],
        "variationId": 180498
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237823281T>C?assembly=hg19",
        "id": "chr1:g.237823281T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237659981T>C?assembly=hg38",
        "id": "chr1:g.237659981T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371966353",
        "rs": 371966353
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237823281-T-C?dataset=gnomad_r2_1",
        "id": "1-237823281-T-C",
        "variant": "1:237823281 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237659981-T-C?dataset=gnomad_r3",
        "id": "1-237659981-T-C",
        "variant": "1:237659981 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237659981-T-C?dataset=gnomad_r4",
        "id": "1-237659981-T-C",
        "variant": "1:237659981 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237659981,
          "referenceAllele": "T",
          "start": 237659980
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237659981T>C",
        "CM000663.2:g.237659981T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237823281,
          "referenceAllele": "T",
          "start": 237823280
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237823281T>C",
        "CM000663.1:g.237823281T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 235889904,
          "referenceAllele": "T",
          "start": 235889903
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235889904T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 622580,
          "referenceAllele": "T",
          "start": 622579
        }
      ],
      "hgvs": [
        "NG_008799.2:g.622580T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 622798,
          "referenceAllele": "T",
          "start": 622797
        }
      ],
      "hgvs": [
        "NG_008799.3:g.622798T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8546,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8546,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.8209-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.8209-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8546,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8546,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.8209-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:n.8209-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8546,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8546,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.8209-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:n.8209-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 397,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.398-4T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8546,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8546,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.8209-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.8209-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.8209-4T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.8209-4T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.8209-4T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.8209-4T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 397,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.398-4T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8160,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8160,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.8161-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:n.8161-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8525,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8525,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.8209-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.8209-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8328,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8328,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.8209-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.8209-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8479,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8479,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.8239-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.8239-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8476,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8476,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.8236-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.8236-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8478,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8478,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.8239-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.8239-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8444,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8444,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.8209-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.8209-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8479,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8479,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.8239-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.8239-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8479,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8479,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.8239-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.8239-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8477,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8477,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.8239-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.8239-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8445,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8445,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.8206-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.8206-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8519,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8519,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.8520-4T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8552,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8552,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.8239-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.8239-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8549,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8549,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.8236-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.8236-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8552,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8552,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.8239-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.8239-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8522,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8522,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.8209-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.8209-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8552,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8552,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.8239-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.8239-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8552,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8552,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.8239-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.8239-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8552,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8552,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.8239-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.8239-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8519,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8519,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.8206-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.8206-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8531,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8531,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.8218-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:n.8218-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8619,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8619,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.8620-4T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8552,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8552,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.8553-4T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8546,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 8546,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.8209-4T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.8209-4T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.8209-4T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.8209-4T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.8209-4T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.8209-4T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}