{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA969763294",
  "communityStandardTitle": [
    "NM_000103.4(CYP19A1):c.-38-34263T>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2305707",
        "rs": 2305707
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-51277213-A-T?dataset=gnomad_r3",
        "id": "15-51277213-A-T",
        "variant": "15:51277213 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-51277213-A-T?dataset=gnomad_r4",
        "id": "15-51277213-A-T",
        "variant": "15:51277213 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 51277213,
          "referenceAllele": "A",
          "start": 51277212
        }
      ],
      "hgvs": [
        "NC_000015.10:g.51277213A>T",
        "CM000677.2:g.51277213A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 51569410,
          "referenceAllele": "A",
          "start": 51569409
        }
      ],
      "hgvs": [
        "NC_000015.9:g.51569410A>T",
        "CM000677.1:g.51569410A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 49356702,
          "referenceAllele": "A",
          "start": 49356701
        }
      ],
      "hgvs": [
        "NC_000015.8:g.49356702A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66386,
          "referenceAllele": "T",
          "start": 66385
        }
      ],
      "hgvs": [
        "NG_007982.1:g.66386T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000750"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 102,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000396402.6:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379683.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396402.6:c.-38-34263T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000103.4:c.-38-34263T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379683.1:n.-38-34263T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000094.2:n.-38-34263T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 109,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000260433.6:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260433.2:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 116,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000396402.5:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379683.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000396404.8:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379685.4:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 258,
          "endIntronDirection": "+",
          "endIntronOffset": 795,
          "referenceAllele": "T",
          "start": 258,
          "startIntronDirection": "+",
          "startIntronOffset": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000405011.6:c.-39+795T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384389.2:n.-39+795T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 21451,
          "referenceAllele": "T",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 21452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000439712.6:c.-282-21452T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390614.2:n.-282-21452T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107,
          "endIntronDirection": "-",
          "endIntronOffset": 21504,
          "referenceAllele": "T",
          "start": 107,
          "startIntronDirection": "-",
          "startIntronOffset": 21505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000453807.6:c.-229-21505T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391139.2:n.-229-21505T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 81,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000557858.5:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452627.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 102,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000557934.5:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454004.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 144,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000558328.5:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453280.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 60,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000559646.1:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453318.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 195,
          "endIntronDirection": "-",
          "endIntronOffset": 21451,
          "referenceAllele": "T",
          "start": 195,
          "startIntronDirection": "-",
          "startIntronOffset": 21452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000559980.5:c.-282-21452T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452872.1:n.-282-21452T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 328,
          "referenceAllele": "T",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000561066.1:n.328T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 102,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "ENST00000561075.5:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454039.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_000103.3:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000094.2:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_031226.2:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_112503.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "XM_005254191.1:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254248.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5272,
          "endIntronDirection": "-",
          "endIntronOffset": 769,
          "referenceAllele": "A",
          "start": 5272,
          "startIntronDirection": "-",
          "startIntronOffset": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037570",
      "geneNCBI_id": 100313865,
      "geneSymbol": "PIRC66",
      "hgvs": [
        "XR_932220.1:n.5273-770A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5272,
          "endIntronDirection": "-",
          "endIntronOffset": 769,
          "referenceAllele": "A",
          "start": 5272,
          "startIntronDirection": "-",
          "startIntronOffset": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037570",
      "geneNCBI_id": 100313865,
      "geneSymbol": "PIRC66",
      "hgvs": [
        "XR_932221.1:n.5273-770A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "endIntronDirection": "-",
          "endIntronOffset": 769,
          "referenceAllele": "A",
          "start": 98,
          "startIntronDirection": "-",
          "startIntronOffset": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037570",
      "geneNCBI_id": 100313865,
      "geneSymbol": "PIRC66",
      "hgvs": [
        "XR_932222.1:n.99-770A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 109,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_001347248.1:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334177.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 323,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 323,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_001347249.1:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334178.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 11037,
          "referenceAllele": "T",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 11036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_001347250.1:c.-39+11037T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334179.1:n.-39+11037T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 101,
          "endIntronDirection": "+",
          "endIntronOffset": 4949,
          "referenceAllele": "T",
          "start": 101,
          "startIntronDirection": "+",
          "startIntronOffset": 4948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_001347251.1:c.-39+4949T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334180.1:n.-39+4949T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "endIntronDirection": "+",
          "endIntronOffset": 795,
          "referenceAllele": "T",
          "start": 135,
          "startIntronDirection": "+",
          "startIntronOffset": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_001347252.1:c.-39+795T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334181.1:n.-39+795T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "endIntronDirection": "-",
          "endIntronOffset": 769,
          "referenceAllele": "A",
          "start": 194,
          "startIntronDirection": "-",
          "startIntronOffset": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053124",
      "geneNCBI_id": 109729174,
      "geneSymbol": "MIR4713HG",
      "hgvs": [
        "NR_146310.1:n.195-770A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 102,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_000103.4:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000094.2:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396402.6:c.-38-34263T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000103.4:c.-38-34263T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379683.1:n.-38-34263T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000094.2:n.-38-34263T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_001347249.2:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334178.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 34262,
          "referenceAllele": "T",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 34263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_031226.3:c.-38-34263T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_112503.1:n.-38-34263T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 11037,
          "referenceAllele": "T",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 11036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_001347250.2:c.-39+11037T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334179.1:n.-39+11037T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 101,
          "endIntronDirection": "+",
          "endIntronOffset": 4949,
          "referenceAllele": "T",
          "start": 101,
          "startIntronDirection": "+",
          "startIntronOffset": 4948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_001347251.2:c.-39+4949T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334180.1:n.-39+4949T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "endIntronDirection": "+",
          "endIntronOffset": 795,
          "referenceAllele": "T",
          "start": 153,
          "startIntronDirection": "+",
          "startIntronOffset": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002594",
      "geneNCBI_id": 1588,
      "geneSymbol": "CYP19A1",
      "hgvs": [
        "NM_001347252.2:c.-39+795T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334181.1:n.-39+795T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719043"
    }
  ],
  "type": "nucleotide"
}