{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16003124",
  "communityStandardTitle": [
    "NM_000754.4(COMT):c.616-367C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.19955692C>T?assembly=hg19",
        "id": "chr22:g.19955692C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.19968169C>T?assembly=hg38",
        "id": "chr22:g.19968169C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9332377",
        "rs": 9332377
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-19955692-C-T?dataset=gnomad_r2_1",
        "id": "22-19955692-C-T",
        "variant": "22:19955692 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-19968169-C-T?dataset=gnomad_r3",
        "id": "22-19968169-C-T",
        "variant": "22:19968169 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-19968169-C-T?dataset=gnomad_r4",
        "id": "22-19968169-C-T",
        "variant": "22:19968169 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 19968169,
          "referenceAllele": "C",
          "start": 19968168
        }
      ],
      "hgvs": [
        "NC_000022.11:g.19968169C>T",
        "CM000684.2:g.19968169C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 19955692,
          "referenceAllele": "C",
          "start": 19955691
        }
      ],
      "hgvs": [
        "NC_000022.10:g.19955692C>T",
        "CM000684.1:g.19955692C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 18335692,
          "referenceAllele": "C",
          "start": 18335691
        }
      ],
      "hgvs": [
        "NC_000022.9:g.18335692C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31430,
          "referenceAllele": "C",
          "start": 31429
        }
      ],
      "hgvs": [
        "NG_011526.1:g.31430C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53618,
          "referenceAllele": "G",
          "start": 53617
        }
      ],
      "hgvs": [
        "NG_023326.1:g.53618G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 832,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000361682.11:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354511.6:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749519",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361682.11:c.616-367C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000754.4:c.616-367C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354511.6:n.616-367C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000745.1:n.616-367C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1739,
          "referenceAllele": "C",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000428707.2:c.*742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387695.2:n.*742C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 911,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000676678.1:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503719.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000677397.1:c.*195-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503422.1:n.*195-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 465,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000677470.1:n.466-367C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 398,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000677564.1:n.399-367C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 415,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000677675.1:n.416-367C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 1699,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000678255.1:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504402.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 863,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 863,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000678769.1:c.709-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503289.1:n.709-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000678868.1:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503583.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000678945.1:n.484-367C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 838,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000207636.9:c.*74-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207636.5:n.*74-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 997,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 997,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000361682.10:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354511.6:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1125,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 1125,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000403710.5:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385917.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 858,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000406520.7:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385150.3:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 994,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000407537.5:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384654.2:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000412786.5:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403958.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000449653.5:c.466-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416778.1:n.466-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 864,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_000754.3:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000745.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 822,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001135161.1:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128633.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 839,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001135162.1:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128634.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 595,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_007310.2:c.466-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009294.1:n.466-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3049,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 3049,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_005261242.1:c.2764-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261299.1:n.2764-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3067,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 3067,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_006724243.1:c.2782-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724306.1:n.2782-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5796,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 5796,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_006724246.2:c.2536-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724309.1:n.2536-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 769,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_011529886.1:c.730-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528188.1:n.730-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3034,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 3034,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_011530179.1:c.2749-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528481.1:n.2749-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1730,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 1730,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_011530182.1:c.1348-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528484.1:n.1348-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1158,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 1158,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001362828.1:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349757.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3049,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 3049,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_005261242.3:c.2764-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261299.1:n.2764-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3067,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 3067,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_006724243.3:c.2782-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724306.1:n.2782-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5905,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 5905,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_006724246.4:c.2536-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724309.1:n.2536-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2069,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 2069,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_011529886.2:c.1027-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528188.2:n.1027-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3034,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 3034,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_011530179.3:c.2749-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528481.1:n.2749-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1679,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 1679,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_011530182.3:c.1348-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528484.1:n.1348-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 1032,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_017028595.1:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884084.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2927,
          "endIntronDirection": "-",
          "endIntronOffset": 959,
          "referenceAllele": "G",
          "start": 2927,
          "startIntronDirection": "-",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000728",
      "geneNCBI_id": 421,
      "geneSymbol": "ARVCF",
      "hgvs": [
        "XM_024452249.1:c.2536-960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308017.1:n.2536-960G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 832,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_000754.4:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000745.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674944",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361682.11:c.616-367C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000754.4:c.616-367C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354511.6:n.616-367C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000745.1:n.616-367C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 857,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001135161.2:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128633.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 843,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001135162.2:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128634.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1126,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 1126,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001362828.2:c.616-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349757.1:n.616-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "C",
          "start": 589,
          "startIntronDirection": "-",
          "startIntronOffset": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_007310.3:c.466-367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009294.1:n.466-367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696966"
    }
  ],
  "type": "nucleotide"
}