{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12134551",
  "communityStandardTitle": [
    "NM_000827.4(GRIA1):c.2386-3102C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.153178814C>T?assembly=hg19",
        "id": "chr5:g.153178814C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.153799254C>T?assembly=hg38",
        "id": "chr5:g.153799254C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10070447",
        "rs": 10070447
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-153178814-C-T?dataset=gnomad_r2_1",
        "id": "5-153178814-C-T",
        "variant": "5:153178814 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-153799254-C-T?dataset=gnomad_r3",
        "id": "5-153799254-C-T",
        "variant": "5:153799254 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-153799254-C-T?dataset=gnomad_r4",
        "id": "5-153799254-C-T",
        "variant": "5:153799254 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 153799254,
          "referenceAllele": "C",
          "start": 153799253
        }
      ],
      "hgvs": [
        "NC_000005.10:g.153799254C>T",
        "CM000667.2:g.153799254C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 153178814,
          "referenceAllele": "C",
          "start": 153178813
        }
      ],
      "hgvs": [
        "NC_000005.9:g.153178814C>T",
        "CM000667.1:g.153178814C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 153159007,
          "referenceAllele": "C",
          "start": 153159006
        }
      ],
      "hgvs": [
        "NC_000005.8:g.153159007C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 314559,
          "referenceAllele": "C",
          "start": 314558
        }
      ],
      "hgvs": [
        "NG_047078.1:g.314559C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616602"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2604,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2604,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "ENST00000340592.10:c.2386-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339343.5:n.2386-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2770,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2770,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "ENST00000706733.1:c.2509-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516520.1:n.2509-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2756,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2756,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "ENST00000706734.1:c.2413-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516521.1:n.2413-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2604,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2604,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "ENST00000285900.10:c.2386-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285900.4:n.2386-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743828",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285900.10:c.2386-3102C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000827.4:c.2386-3102C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285900.4:n.2386-3102C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000818.2:n.2386-3102C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2728,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2728,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "ENST00000285900.9:c.2386-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285900.4:n.2386-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2458,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "ENST00000340592.9:c.2386-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339343.5:n.2386-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2442,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "ENST00000448073.8:c.2416-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415569.2:n.2416-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2379,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2379,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "ENST00000518142.5:c.2146-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427920.1:n.2146-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2442,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "ENST00000518783.1:c.2416-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428994.1:n.2416-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2339,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2339,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "ENST00000521843.6:c.2179-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427864.2:n.2179-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2750,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2750,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_000827.3:c.2386-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000818.2:n.2386-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2750,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2750,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001114183.1:c.2386-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107655.1:n.2386-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2510,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2510,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001258019.1:c.2146-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244948.1:n.2146-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2807,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2807,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001258020.1:c.2101-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244949.1:n.2101-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2442,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001258021.1:c.2416-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244950.1:n.2416-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2442,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001258022.1:c.2416-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244951.1:n.2416-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2339,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2339,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001258023.1:c.2179-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244952.1:n.2179-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2497,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2497,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NR_047578.1:n.2498-3102C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2445,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2445,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "XM_011537635.1:c.2326-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535937.1:n.2326-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2540,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "XR_427776.2:n.2541-3102C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2436,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2436,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001364165.1:c.2218-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351094.1:n.2218-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3051,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 3051,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001364166.1:c.2413-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351095.1:n.2413-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2966,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2966,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001364167.1:c.2179-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351096.1:n.2179-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2719,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2719,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NR_157093.1:n.2720-3102C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2447,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2447,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "XM_017009392.1:c.2426-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864881.1:n.2426-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2604,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2604,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_000827.4:c.2386-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000818.2:n.2386-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662604",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285900.10:c.2386-3102C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000827.4:c.2386-3102C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285900.4:n.2386-3102C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000818.2:n.2386-3102C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2604,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2604,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001114183.2:c.2386-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107655.1:n.2386-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2364,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2364,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001258019.2:c.2146-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244948.1:n.2146-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2661,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2661,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001258020.2:c.2101-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244949.1:n.2101-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2442,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001258021.2:c.2416-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244950.1:n.2416-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2442,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001258022.2:c.2416-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244951.1:n.2416-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2436,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2436,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001364165.2:c.2218-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351094.1:n.2218-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3051,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 3051,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001364166.2:c.2413-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351095.1:n.2413-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2966,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2966,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NM_001364167.2:c.2179-3102C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351096.1:n.2179-3102C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2351,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2351,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NR_047578.2:n.2352-3102C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2719,
          "endIntronDirection": "-",
          "endIntronOffset": 3101,
          "referenceAllele": "C",
          "start": 2719,
          "startIntronDirection": "-",
          "startIntronOffset": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004571",
      "geneNCBI_id": 2890,
      "geneSymbol": "GRIA1",
      "hgvs": [
        "NR_157093.2:n.2720-3102C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731560"
    }
  ],
  "type": "nucleotide"
}