{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127287",
  "communityStandardTitle": [
    "NM_000754.4(COMT):c.472G>A (p.Val158Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4997949"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32630[alleleid]",
        "alleleId": 32630,
        "preferredName": "NM_000754.4(COMT):c.472G>A (p.Val158Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17591",
        "RCV": [
          "RCV000019156",
          "RCV000244083",
          "RCV001028880",
          "RCV003633481"
        ],
        "variationId": 17591
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-19951271-G-A",
        "id": "22-19951271-G-A",
        "variant": "22:19951271 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.19951271G>A?assembly=hg19",
        "id": "chr22:g.19951271G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.19963748G>A?assembly=hg38",
        "id": "chr22:g.19963748G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4680",
        "rs": 4680
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-19951271-G-A?dataset=gnomad_r2_1",
        "id": "22-19951271-G-A",
        "variant": "22:19951271 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-19963748-G-A?dataset=gnomad_r3",
        "id": "22-19963748-G-A",
        "variant": "22:19963748 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-19963748-G-A?dataset=gnomad_r4",
        "id": "22-19963748-G-A",
        "variant": "22:19963748 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 19963748,
          "referenceAllele": "G",
          "start": 19963747
        }
      ],
      "hgvs": [
        "NC_000022.11:g.19963748G>A",
        "CM000684.2:g.19963748G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 19951271,
          "referenceAllele": "G",
          "start": 19951270
        }
      ],
      "hgvs": [
        "NC_000022.10:g.19951271G>A",
        "CM000684.1:g.19951271G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 18331271,
          "referenceAllele": "G",
          "start": 18331270
        }
      ],
      "hgvs": [
        "NC_000022.9:g.18331271G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27009,
          "referenceAllele": "G",
          "start": 27008
        }
      ],
      "hgvs": [
        "NG_011526.1:g.27009G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001793"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000361682.11:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354511.6:p.Val158Met",
        "hgvsWellDefined": "ENSP00000354511.6:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749519",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361682.11:c.472G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000754.4:c.472G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354511.6:p.Val158Met"
          },
          "RefSeq": {
            "hgvs": "NP_000745.1:p.Val158Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000428707.2:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387695.2:p.Val158Met",
        "hgvsWellDefined": "ENSP00000387695.2:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000676678.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503719.1:p.Val158Met",
        "hgvsWellDefined": "ENSP00000503719.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000677397.1:c.322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503422.1:p.Val108Met",
        "hgvsWellDefined": "ENSP00000503422.1:p.Val108Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000677564.1:n.255G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000677675.1:n.272G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000678240.1:n.320G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "referenceAllele": "G",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000678255.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504402.1:p.Val158Met",
        "hgvsWellDefined": "ENSP00000504402.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 627,
          "referenceAllele": "G",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000678769.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503289.1:p.Val158Met",
        "hgvsWellDefined": "ENSP00000503289.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "referenceAllele": "G",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000678868.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503583.1:p.Val158Met",
        "hgvsWellDefined": "ENSP00000503583.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000678945.1:n.282G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000207636.9:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207636.5:p.Val158Met",
        "hgvsWellDefined": "ENSP00000207636.5:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000361682.10:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354511.6:p.Val158Met",
        "hgvsWellDefined": "ENSP00000354511.6:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000403184.5:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383966.1:p.Val158Met",
        "hgvsWellDefined": "ENSP00000383966.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000403710.5:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385917.1:p.Val158Met",
        "hgvsWellDefined": "ENSP00000385917.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000406520.7:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385150.3:p.Val158Met",
        "hgvsWellDefined": "ENSP00000385150.3:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000407537.5:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384654.2:p.Val158Met",
        "hgvsWellDefined": "ENSP00000384654.2:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "G",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000412786.5:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403958.1:p.Val158Met",
        "hgvsWellDefined": "ENSP00000403958.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50,
          "referenceAllele": "G",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000428707.1:c.50G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS290325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000449653.5:c.322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416778.1:p.Val108Met",
        "hgvsWellDefined": "ENSP00000416778.1:p.Val108Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "referenceAllele": "G",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "ENST00000493893.1:n.210G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127288",
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_000754.3:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000745.1:p.Val158Met",
        "hgvsWellDefined": "NP_000745.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825789304",
      "coordinates": [
        {
          "allele": "A",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001135161.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128633.1:p.Val158Met",
        "hgvsWellDefined": "NP_001128633.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825789352",
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001135162.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128634.1:p.Val158Met",
        "hgvsWellDefined": "NP_001128634.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829712088",
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_007310.2:c.322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009294.1:p.Val108Met",
        "hgvsWellDefined": "NP_009294.1:p.Val108Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_011529885.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528187.1:p.Val196Met",
        "hgvsWellDefined": "XP_011528187.1:p.Val196Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_011529886.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528188.1:p.Val196Met",
        "hgvsWellDefined": "XP_011528188.1:p.Val196Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_011529887.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528189.1:p.Val158Met",
        "hgvsWellDefined": "XP_011528189.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_011529888.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528190.1:p.Val158Met",
        "hgvsWellDefined": "XP_011528190.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_011529889.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528191.1:p.Val158Met",
        "hgvsWellDefined": "XP_011528191.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_011529890.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528192.1:p.Val158Met",
        "hgvsWellDefined": "XP_011528192.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_011529891.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528193.1:p.Val158Met",
        "hgvsWellDefined": "XP_011528193.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043510",
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001362828.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349757.1:p.Val158Met",
        "hgvsWellDefined": "NP_001349757.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1926,
          "referenceAllele": "G",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_011529886.2:c.883G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528188.2:p.Val295Met",
        "hgvsWellDefined": "XP_011528188.2:p.Val295Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "XM_017028595.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884084.1:p.Val158Met",
        "hgvsWellDefined": "XP_016884084.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127288",
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_000754.4:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000745.1:p.Val158Met",
        "hgvsWellDefined": "NP_000745.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674944",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361682.11:c.472G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000754.4:c.472G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354511.6:p.Val158Met"
          },
          "RefSeq": {
            "hgvs": "NP_000745.1:p.Val158Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825789304",
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001135161.2:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128633.1:p.Val158Met",
        "hgvsWellDefined": "NP_001128633.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825789352",
      "coordinates": [
        {
          "allele": "A",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001135162.2:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128634.1:p.Val158Met",
        "hgvsWellDefined": "NP_001128634.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677289"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043510",
      "coordinates": [
        {
          "allele": "A",
          "end": 983,
          "referenceAllele": "G",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_001362828.2:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349757.1:p.Val158Met",
        "hgvsWellDefined": "NP_001349757.1:p.Val158Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829712088",
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002228",
      "geneNCBI_id": 1312,
      "geneSymbol": "COMT",
      "hgvs": [
        "NM_007310.3:c.322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009294.1:p.Val108Met",
        "hgvsWellDefined": "NP_009294.1:p.Val108Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696966"
    }
  ],
  "type": "nucleotide"
}