{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351649720",
  "communityStandardTitle": [
    "NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=550357[alleleid]",
        "alleleId": 550357,
        "preferredName": "NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/559630",
        "RCV": [
          "RCV000677398",
          "RCV001771923",
          "RCV001644763"
        ],
        "variationId": 559630
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.4856828T>C?assembly=hg19",
        "id": "chr3:g.4856828T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.4815144T>C?assembly=hg38",
        "id": "chr3:g.4815144T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553758021",
        "rs": 1553758021
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 4815144,
          "referenceAllele": "T",
          "start": 4815143
        }
      ],
      "hgvs": [
        "NC_000003.12:g.4815144T>C",
        "CM000665.2:g.4815144T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 4856828,
          "referenceAllele": "T",
          "start": 4856827
        }
      ],
      "hgvs": [
        "NC_000003.11:g.4856828T>C",
        "CM000665.1:g.4856828T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 4831828,
          "referenceAllele": "T",
          "start": 4831827
        }
      ],
      "hgvs": [
        "NC_000003.10:g.4831828T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 326797,
          "referenceAllele": "T",
          "start": 326796
        }
      ],
      "hgvs": [
        "NG_016144.1:g.326797T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002976"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7804,
          "referenceAllele": "T",
          "start": 7803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000302640.13:c.7804T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306253.9:n.7804T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8119,
          "referenceAllele": "T",
          "start": 8118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000354582.12:c.7769T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346595.8:p.Ile2590Thr",
        "hgvsWellDefined": "ENSP00000346595.8:p.Ile2590Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7993,
          "referenceAllele": "T",
          "start": 7992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000443694.5:c.7748T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401671.2:p.Ile2583Thr",
        "hgvsWellDefined": "ENSP00000401671.2:p.Ile2583Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8097,
          "referenceAllele": "T",
          "start": 8096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000354582.11:c.7769T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346595.8:p.Ile2590Thr",
        "hgvsWellDefined": "ENSP00000346595.8:p.Ile2590Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8002,
          "referenceAllele": "T",
          "start": 8001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000357086.10:c.7649T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349597.4:p.Ile2550Thr",
        "hgvsWellDefined": "ENSP00000349597.4:p.Ile2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7748,
          "referenceAllele": "T",
          "start": 7747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000443694.4:c.7748T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401671.2:p.Ile2583Thr",
        "hgvsWellDefined": "ENSP00000401671.2:p.Ile2583Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7850,
          "referenceAllele": "T",
          "start": 7849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000456211.8:c.7604T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397885.2:p.Ile2535Thr",
        "hgvsWellDefined": "ENSP00000397885.2:p.Ile2535Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "referenceAllele": "T",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000463980.6:n.1110T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1050,
          "referenceAllele": "T",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000467545.6:n.1050T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "T",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000478515.2:c.127T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1071,
          "referenceAllele": "T",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000493491.6:n.1071T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1830,
          "referenceAllele": "T",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000544951.6:c.1682T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440564.1:p.Ile561Thr",
        "hgvsWellDefined": "ENSP00000440564.1:p.Ile561Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000647685.1:c.44T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497835.1:p.Ile15Thr",
        "hgvsWellDefined": "ENSP00000497835.1:p.Ile15Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3692,
          "referenceAllele": "T",
          "start": 3691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000647708.1:c.3692T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769566"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5297,
          "referenceAllele": "T",
          "start": 5296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000647717.1:n.5297T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 813,
          "referenceAllele": "T",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000647997.1:n.813T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4161,
          "referenceAllele": "T",
          "start": 4160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648016.1:c.4161T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5555,
          "referenceAllele": "T",
          "start": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648038.1:c.5555T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497872.1:p.Ile1852Thr",
        "hgvsWellDefined": "ENSP00000497872.1:p.Ile1852Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 804,
          "referenceAllele": "T",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648208.1:n.804T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4734,
          "referenceAllele": "T",
          "start": 4733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648212.1:c.4734T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8010,
          "referenceAllele": "T",
          "start": 8009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648266.1:c.7766T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498014.1:p.Ile2589Thr",
        "hgvsWellDefined": "ENSP00000498014.1:p.Ile2589Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7726,
          "referenceAllele": "T",
          "start": 7725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648309.1:c.7721T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497026.1:p.Ile2574Thr",
        "hgvsWellDefined": "ENSP00000497026.1:p.Ile2574Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 30994,
          "referenceAllele": "T",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 30995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648390.1:c.447-30995T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4972,
          "referenceAllele": "T",
          "start": 4971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648431.1:c.4972T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 887,
          "referenceAllele": "T",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648770.1:n.887T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8143,
          "referenceAllele": "T",
          "start": 8142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000649015.2:c.7793T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497605.1:p.Ile2598Thr",
        "hgvsWellDefined": "ENSP00000497605.1:p.Ile2598Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649015.2:c.7793T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378452.1:c.7793T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497605.1:p.Ile2598Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001365381.1:p.Ile2598Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "T",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000649139.1:c.44T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497226.1:p.Ile15Thr",
        "hgvsWellDefined": "ENSP00000497226.1:p.Ile15Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2841,
          "referenceAllele": "T",
          "start": 2840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000649144.1:n.2841T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 921,
          "referenceAllele": "T",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000649314.1:n.921T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "T",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000649430.1:n.332T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5278,
          "referenceAllele": "T",
          "start": 5277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000649694.1:n.5278T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "T",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000649767.1:n.1125T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 186,
          "referenceAllele": "T",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000649908.1:c.44T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497614.1:p.Ile15Thr",
        "hgvsWellDefined": "ENSP00000497614.1:p.Ile15Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1103,
          "referenceAllele": "T",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000650074.1:n.1103T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2557,
          "referenceAllele": "T",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000650139.1:n.2557T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770961"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7888,
          "referenceAllele": "T",
          "start": 7887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000650294.1:c.7751T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498056.1:p.Ile2584Thr",
        "hgvsWellDefined": "ENSP00000498056.1:p.Ile2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1219,
          "referenceAllele": "T",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000650552.1:n.1219T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771178"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8098,
          "referenceAllele": "T",
          "start": 8097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000302640.12:c.7748T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306253.8:p.Ile2583Thr",
        "hgvsWellDefined": "ENSP00000306253.8:p.Ile2583Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8143,
          "referenceAllele": "T",
          "start": 8142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000354582.10:c.7793T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346595.7:p.Ile2598Thr",
        "hgvsWellDefined": "ENSP00000346595.7:p.Ile2598Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7997,
          "referenceAllele": "T",
          "start": 7996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000357086.9:c.7649T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349597.4:p.Ile2550Thr",
        "hgvsWellDefined": "ENSP00000349597.4:p.Ile2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7748,
          "referenceAllele": "T",
          "start": 7747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000443694.3:c.7748T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401671.2:p.Ile2583Thr",
        "hgvsWellDefined": "ENSP00000401671.2:p.Ile2583Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7952,
          "referenceAllele": "T",
          "start": 7951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000456211.7:c.7604T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397885.2:p.Ile2535Thr",
        "hgvsWellDefined": "ENSP00000397885.2:p.Ile2535Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1095,
          "referenceAllele": "T",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000463980.5:n.1095T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 420,
          "referenceAllele": "T",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000472205.1:n.420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "referenceAllele": "T",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000478515.1:n.500T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1071,
          "referenceAllele": "T",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000493491.5:n.1071T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2032,
          "referenceAllele": "T",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000544951.5:c.1682T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440564.1:p.Ile561Thr",
        "hgvsWellDefined": "ENSP00000440564.1:p.Ile561Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505508",
      "coordinates": [
        {
          "allele": "C",
          "end": 7999,
          "referenceAllele": "T",
          "start": 7998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001099952.2:c.7649T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093422.2:p.Ile2550Thr",
        "hgvsWellDefined": "NP_001093422.2:p.Ile2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658832851",
      "coordinates": [
        {
          "allele": "C",
          "end": 8098,
          "referenceAllele": "T",
          "start": 8097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001168272.1:c.7748T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161744.1:p.Ile2583Thr",
        "hgvsWellDefined": "NP_001161744.1:p.Ile2583Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829366451",
      "coordinates": [
        {
          "allele": "C",
          "end": 7954,
          "referenceAllele": "T",
          "start": 7953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_002222.5:c.7604T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002213.5:p.Ile2535Thr",
        "hgvsWellDefined": "NP_002213.5:p.Ile2535Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8074,
          "referenceAllele": "T",
          "start": 8073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_005265109.2:c.7724T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265166.1:p.Ile2575Thr",
        "hgvsWellDefined": "XP_005265166.1:p.Ile2575Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8026,
          "referenceAllele": "T",
          "start": 8025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_005265110.2:c.7676T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265167.1:p.Ile2559Thr",
        "hgvsWellDefined": "XP_005265167.1:p.Ile2559Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8077,
          "referenceAllele": "T",
          "start": 8076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_006713131.2:c.7727T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713194.1:p.Ile2576Thr",
        "hgvsWellDefined": "XP_006713194.1:p.Ile2576Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8146,
          "referenceAllele": "T",
          "start": 8145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533681.1:c.7796T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531983.1:p.Ile2599Thr",
        "hgvsWellDefined": "XP_011531983.1:p.Ile2599Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8115,
          "referenceAllele": "T",
          "start": 8114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533682.1:c.7796T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531984.1:p.Ile2599Thr",
        "hgvsWellDefined": "XP_011531984.1:p.Ile2599Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8143,
          "referenceAllele": "T",
          "start": 8142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533683.1:c.7793T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531985.1:p.Ile2598Thr",
        "hgvsWellDefined": "XP_011531985.1:p.Ile2598Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8119,
          "referenceAllele": "T",
          "start": 8118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533684.1:c.7769T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531986.1:p.Ile2590Thr",
        "hgvsWellDefined": "XP_011531986.1:p.Ile2590Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8113,
          "referenceAllele": "T",
          "start": 8112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533685.1:c.7763T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531987.1:p.Ile2588Thr",
        "hgvsWellDefined": "XP_011531987.1:p.Ile2588Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8110,
          "referenceAllele": "T",
          "start": 8109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533686.1:c.7760T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531988.1:p.Ile2587Thr",
        "hgvsWellDefined": "XP_011531988.1:p.Ile2587Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8101,
          "referenceAllele": "T",
          "start": 8100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533687.1:c.7751T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531989.1:p.Ile2584Thr",
        "hgvsWellDefined": "XP_011531989.1:p.Ile2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8074,
          "referenceAllele": "T",
          "start": 8073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533688.1:c.7724T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531990.1:p.Ile2575Thr",
        "hgvsWellDefined": "XP_011531990.1:p.Ile2575Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8035,
          "referenceAllele": "T",
          "start": 8034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533689.1:c.7685T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531991.1:p.Ile2562Thr",
        "hgvsWellDefined": "XP_011531991.1:p.Ile2562Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8023,
          "referenceAllele": "T",
          "start": 8022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533690.1:c.7673T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531992.1:p.Ile2558Thr",
        "hgvsWellDefined": "XP_011531992.1:p.Ile2558Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8074,
          "referenceAllele": "T",
          "start": 8073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_005265109.3:c.7724T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265166.1:p.Ile2575Thr",
        "hgvsWellDefined": "XP_005265166.1:p.Ile2575Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8026,
          "referenceAllele": "T",
          "start": 8025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_005265110.3:c.7676T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265167.1:p.Ile2559Thr",
        "hgvsWellDefined": "XP_005265167.1:p.Ile2559Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8077,
          "referenceAllele": "T",
          "start": 8076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_006713131.3:c.7727T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713194.1:p.Ile2576Thr",
        "hgvsWellDefined": "XP_006713194.1:p.Ile2576Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8072,
          "referenceAllele": "T",
          "start": 8071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533682.3:c.7796T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531984.1:p.Ile2599Thr",
        "hgvsWellDefined": "XP_011531984.1:p.Ile2599Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8143,
          "referenceAllele": "T",
          "start": 8142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533683.3:c.7793T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531985.1:p.Ile2598Thr",
        "hgvsWellDefined": "XP_011531985.1:p.Ile2598Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8119,
          "referenceAllele": "T",
          "start": 8118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533684.2:c.7769T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531986.1:p.Ile2590Thr",
        "hgvsWellDefined": "XP_011531986.1:p.Ile2590Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8113,
          "referenceAllele": "T",
          "start": 8112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533685.2:c.7763T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531987.1:p.Ile2588Thr",
        "hgvsWellDefined": "XP_011531987.1:p.Ile2588Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8110,
          "referenceAllele": "T",
          "start": 8109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533686.2:c.7760T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531988.1:p.Ile2587Thr",
        "hgvsWellDefined": "XP_011531988.1:p.Ile2587Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8101,
          "referenceAllele": "T",
          "start": 8100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533687.2:c.7751T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531989.1:p.Ile2584Thr",
        "hgvsWellDefined": "XP_011531989.1:p.Ile2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8074,
          "referenceAllele": "T",
          "start": 8073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533688.2:c.7724T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531990.1:p.Ile2575Thr",
        "hgvsWellDefined": "XP_011531990.1:p.Ile2575Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8023,
          "referenceAllele": "T",
          "start": 8022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533690.2:c.7673T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531992.1:p.Ile2558Thr",
        "hgvsWellDefined": "XP_011531992.1:p.Ile2558Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8020,
          "referenceAllele": "T",
          "start": 8019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_017006357.2:c.7670T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861846.1:p.Ile2557Thr",
        "hgvsWellDefined": "XP_016861846.1:p.Ile2557Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505508",
      "coordinates": [
        {
          "allele": "C",
          "end": 7999,
          "referenceAllele": "T",
          "start": 7998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001099952.3:c.7649T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093422.2:p.Ile2550Thr",
        "hgvsWellDefined": "NP_001093422.2:p.Ile2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829366451",
      "coordinates": [
        {
          "allele": "C",
          "end": 7954,
          "referenceAllele": "T",
          "start": 7953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_002222.6:c.7604T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002213.5:p.Ile2535Thr",
        "hgvsWellDefined": "NP_002213.5:p.Ile2535Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505508",
      "coordinates": [
        {
          "allele": "C",
          "end": 7999,
          "referenceAllele": "T",
          "start": 7998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001099952.4:c.7649T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093422.2:p.Ile2550Thr",
        "hgvsWellDefined": "NP_001093422.2:p.Ile2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711995"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658832851",
      "coordinates": [
        {
          "allele": "C",
          "end": 8098,
          "referenceAllele": "T",
          "start": 8097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001168272.2:c.7748T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161744.1:p.Ile2583Thr",
        "hgvsWellDefined": "NP_001161744.1:p.Ile2583Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573075225",
      "coordinates": [
        {
          "allele": "C",
          "end": 8143,
          "referenceAllele": "T",
          "start": 8142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001378452.1:c.7793T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365381.1:p.Ile2598Thr",
        "hgvsWellDefined": "NP_001365381.1:p.Ile2598Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721704",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649015.2:c.7793T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378452.1:c.7793T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497605.1:p.Ile2598Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001365381.1:p.Ile2598Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829366451",
      "coordinates": [
        {
          "allele": "C",
          "end": 7954,
          "referenceAllele": "T",
          "start": 7953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_002222.7:c.7604T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002213.5:p.Ile2535Thr",
        "hgvsWellDefined": "NP_002213.5:p.Ile2535Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727258"
    }
  ],
  "type": "nucleotide"
}