{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2581121894",
  "communityStandardTitle": [
    "NM_000618.5(IGF1):c.403-3254T>G"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5742692",
        "rs": 5742692
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102405820,
          "referenceAllele": "A",
          "start": 102405819
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102405820A>C",
        "CM000674.2:g.102405820A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102799598,
          "referenceAllele": "A",
          "start": 102799597
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102799598A>C",
        "CM000674.1:g.102799598A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101323728,
          "referenceAllele": "A",
          "start": 101323727
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101323728A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 79781,
          "referenceAllele": "T",
          "start": 79780
        }
      ],
      "hgvs": [
        "NG_011713.1:g.79781T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001920"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "ENST00000337514.11:c.403-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337612.7:n.403-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747664",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337514.11:c.403-3254T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000618.5:c.403-3254T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337612.7:n.403-3254T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000609.1:n.403-3254T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 680,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "ENST00000392905.7:c.452-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376638.3:n.452-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 463,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "ENST00000644491.1:c.403-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494228.1:n.403-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 666,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "ENST00000337514.10:c.403-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337612.6:n.403-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "ENST00000392904.5:c.452-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376637.1:n.452-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "ENST00000392905.6:c.395-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376638.2:n.395-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "ENST00000424202.6:c.355-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416811.2:n.355-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 670,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "ENST00000456098.5:c.452-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394999.1:n.452-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 43,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "ENST00000481539.1:n.44-3254T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321431"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 621,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "NM_000618.3:c.403-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000609.1:n.403-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 666,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "NM_000618.4:c.403-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000609.1:n.403-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 670,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "NM_001111283.1:c.452-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104753.1:n.452-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 715,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "NM_001111283.2:c.452-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104753.1:n.452-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "NM_001111284.1:c.355-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104754.1:n.355-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2961,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 2961,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "XR_944534.1:n.2962-3254T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2738,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 2738,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "XR_944535.1:n.2739-3254T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2723,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 2723,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "XR_944536.1:n.2724-3254T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 700,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_945270.1:n.700+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 700,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_945271.1:n.700+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 700,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_945272.1:n.700+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 650,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_945273.1:n.650+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 376,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_945274.1:n.376+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 256,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_945275.1:n.256+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_945276.1:n.228+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 700,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_945277.1:n.700+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "XM_017019262.2:c.503-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874751.1:n.503-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "XM_017019263.2:c.454-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874752.1:n.454-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 815,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_001749285.1:n.815+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 376,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_001749286.1:n.376+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_001749287.1:n.694+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1703,
          "endIntronDirection": "+",
          "endIntronOffset": 1589,
          "referenceAllele": "A",
          "start": 1703,
          "startIntronDirection": "+",
          "startIntronOffset": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053389",
      "geneNCBI_id": 105369942,
      "geneSymbol": "LINC02456",
      "hgvs": [
        "XR_001749288.1:n.1703+1589A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "NM_000618.5:c.403-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000609.1:n.403-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674914",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337514.11:c.403-3254T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000618.5:c.403-3254T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337612.7:n.403-3254T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000609.1:n.403-3254T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 633,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 633,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "NM_001111283.3:c.452-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104753.1:n.452-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 403,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "T",
          "start": 403,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005464",
      "geneNCBI_id": 3479,
      "geneSymbol": "IGF1",
      "hgvs": [
        "NM_001111284.2:c.355-3254T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104754.1:n.355-3254T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676681"
    }
  ],
  "type": "nucleotide"
}