{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15314018",
  "communityStandardTitle": [
    "NM_000807.4(GABRA2):c.*1648C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.46250677G>A?assembly=hg19",
        "id": "chr4:g.46250677G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.46248660G>A?assembly=hg38",
        "id": "chr4:g.46248660G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/497068",
        "rs": 497068
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-46250677-G-A?dataset=gnomad_r2_1",
        "id": "4-46250677-G-A",
        "variant": "4:46250677 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-46248660-G-A?dataset=gnomad_r3",
        "id": "4-46248660-G-A",
        "variant": "4:46248660 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-46248660-G-A?dataset=gnomad_r4",
        "id": "4-46248660-G-A",
        "variant": "4:46248660 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 46248660,
          "referenceAllele": "G",
          "start": 46248659
        }
      ],
      "hgvs": [
        "NC_000004.12:g.46248660G>A",
        "CM000666.2:g.46248660G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 46250677,
          "referenceAllele": "G",
          "start": 46250676
        }
      ],
      "hgvs": [
        "NC_000004.11:g.46250677G>A",
        "CM000666.1:g.46250677G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 45945434,
          "referenceAllele": "G",
          "start": 45945433
        }
      ],
      "hgvs": [
        "NC_000004.10:g.45945434G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 146380,
          "referenceAllele": "C",
          "start": 146379
        }
      ],
      "hgvs": [
        "NG_012835.1:g.146380C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 146380,
          "referenceAllele": "C",
          "start": 146379
        }
      ],
      "hgvs": [
        "NG_012835.2:g.146380C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616191"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3408,
          "referenceAllele": "C",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000381620.9:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371033.4:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752557",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381620.9:c.*1648C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000807.4:c.*1648C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371033.4:n.*1648C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000798.2:n.*1648C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3178,
          "referenceAllele": "C",
          "start": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000510861.5:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421828.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3185,
          "referenceAllele": "C",
          "start": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000514090.5:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421300.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2946,
          "referenceAllele": "C",
          "start": 2945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_005248080.2:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248137.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3349,
          "referenceAllele": "C",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_011513675.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511977.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3325,
          "referenceAllele": "C",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_011513676.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511978.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3348,
          "referenceAllele": "C",
          "start": 3347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_000807.3:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000798.2:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3677,
          "referenceAllele": "C",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001114175.2:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107647.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3460,
          "referenceAllele": "C",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001286827.2:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273756.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3512,
          "referenceAllele": "C",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001330690.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317619.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3145,
          "referenceAllele": "C",
          "start": 3144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_017007982.2:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863471.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3169,
          "referenceAllele": "C",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_017007983.2:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863472.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3580,
          "referenceAllele": "C",
          "start": 3579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453963.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309731.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3621,
          "referenceAllele": "C",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453964.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309732.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3278,
          "referenceAllele": "C",
          "start": 3277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453965.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309733.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "referenceAllele": "C",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453966.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309734.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3533,
          "referenceAllele": "C",
          "start": 3532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453967.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309735.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3102,
          "referenceAllele": "C",
          "start": 3101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453968.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309736.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3174,
          "referenceAllele": "C",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453969.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309737.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3260,
          "referenceAllele": "C",
          "start": 3259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453970.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309738.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3337,
          "referenceAllele": "C",
          "start": 3336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453971.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309739.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453972.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309740.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3352,
          "referenceAllele": "C",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453973.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309741.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3012,
          "referenceAllele": "C",
          "start": 3011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453974.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309742.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3408,
          "referenceAllele": "C",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_000807.4:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000798.2:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381620.9:c.*1648C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000807.4:c.*1648C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371033.4:n.*1648C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000798.2:n.*1648C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3707,
          "referenceAllele": "C",
          "start": 3706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001114175.3:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107647.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3520,
          "referenceAllele": "C",
          "start": 3519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001286827.3:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273756.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3371,
          "referenceAllele": "C",
          "start": 3370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001330690.2:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317619.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3588,
          "referenceAllele": "C",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377144.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364073.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3233,
          "referenceAllele": "C",
          "start": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377145.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364074.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3053,
          "referenceAllele": "C",
          "start": 3052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377146.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364075.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3191,
          "referenceAllele": "C",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377147.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364076.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3196,
          "referenceAllele": "C",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377148.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364077.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3201,
          "referenceAllele": "C",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377149.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364078.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3113,
          "referenceAllele": "C",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377150.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364079.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3212,
          "referenceAllele": "C",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377151.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364080.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3340,
          "referenceAllele": "C",
          "start": 3339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377152.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364081.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3133,
          "referenceAllele": "C",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377153.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364082.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2985,
          "referenceAllele": "C",
          "start": 2984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377154.1:c.*1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364083.1:n.*1648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694946"
    }
  ],
  "type": "nucleotide"
}