{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2130730",
  "communityStandardTitle": [
    "NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=795176[alleleid]",
        "alleleId": 795176,
        "preferredName": "NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/809172",
        "RCV": [
          "RCV000997682",
          "RCV001141054",
          "RCV003962978",
          "RCV004030223"
        ],
        "variationId": 809172
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-220422281-C-T",
        "id": "2-220422281-C-T",
        "variant": "2:220422281 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220422281C>T?assembly=hg19",
        "id": "chr2:g.220422281C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219557559C>T?assembly=hg38",
        "id": "chr2:g.219557559C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74589174",
        "rs": 74589174
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-220422281-C-T?dataset=gnomad_r2_1",
        "id": "2-220422281-C-T",
        "variant": "2:220422281 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219557559-C-T?dataset=gnomad_r3",
        "id": "2-219557559-C-T",
        "variant": "2:219557559 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219557559-C-T?dataset=gnomad_r4",
        "id": "2-219557559-C-T",
        "variant": "2:219557559 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219557559,
          "referenceAllele": "C",
          "start": 219557558
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219557559C>T",
        "CM000664.2:g.219557559C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 220422281,
          "referenceAllele": "C",
          "start": 220422280
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220422281C>T",
        "CM000664.1:g.220422281C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 220130525,
          "referenceAllele": "C",
          "start": 220130524
        }
      ],
      "hgvs": [
        "NC_000002.10:g.220130525C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18988,
          "referenceAllele": "G",
          "start": 18987
        }
      ],
      "hgvs": [
        "NG_016977.1:g.18988G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003346"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4157,
          "referenceAllele": "G",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "ENST00000404537.6:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385636.1:p.Gly1284Ser",
        "hgvsWellDefined": "ENSP00000385636.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404537.6:c.3850G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015311.3:c.3850G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385636.1:p.Gly1284Ser"
          },
          "RefSeq": {
            "hgvs": "NP_056126.1:p.Gly1284Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3799,
          "endIntronDirection": "+",
          "endIntronOffset": 264,
          "referenceAllele": "G",
          "start": 3799,
          "startIntronDirection": "+",
          "startIntronOffset": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "ENST00000373876.5:c.3790+264G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362983.1:n.3790+264G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3907,
          "referenceAllele": "G",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "ENST00000404537.5:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385636.1:p.Gly1284Ser",
        "hgvsWellDefined": "ENSP00000385636.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "endIntronDirection": "+",
          "endIntronOffset": 264,
          "referenceAllele": "G",
          "start": 771,
          "startIntronDirection": "+",
          "startIntronOffset": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "ENST00000456147.1:c.771+264G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3081,
          "referenceAllele": "G",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "ENST00000465149.1:n.3081G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3907,
          "referenceAllele": "G",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "ENST00000603926.5:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474519.1:p.Gly1284Ser",
        "hgvsWellDefined": "ENSP00000474519.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "endIntronDirection": "+",
          "endIntronOffset": 264,
          "referenceAllele": "G",
          "start": 672,
          "startIntronDirection": "+",
          "startIntronOffset": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "ENST00000604031.5:c.672+264G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826087353",
      "coordinates": [
        {
          "allele": "A",
          "end": 4164,
          "referenceAllele": "G",
          "start": 4163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "NM_001173431.1:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166902.1:p.Gly1284Ser",
        "hgvsWellDefined": "NP_001166902.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980583",
      "coordinates": [
        {
          "allele": "A",
          "end": 4164,
          "referenceAllele": "G",
          "start": 4163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "NM_015311.2:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056126.1:p.Gly1284Ser",
        "hgvsWellDefined": "NP_056126.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4135,
          "endIntronDirection": "+",
          "endIntronOffset": 264,
          "referenceAllele": "G",
          "start": 4135,
          "startIntronDirection": "+",
          "startIntronOffset": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_005246424.3:c.3790+264G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246481.1:n.3790+264G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3854,
          "endIntronDirection": "+",
          "endIntronOffset": 264,
          "referenceAllele": "G",
          "start": 3854,
          "startIntronDirection": "+",
          "startIntronOffset": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_005246427.3:c.3514+264G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246484.1:n.3514+264G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4195,
          "referenceAllele": "G",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510854.1:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509156.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509156.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4195,
          "referenceAllele": "G",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510855.1:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509157.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509157.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4195,
          "referenceAllele": "G",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510856.1:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509158.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509158.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4195,
          "referenceAllele": "G",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510857.1:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509159.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509159.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4195,
          "referenceAllele": "G",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510858.1:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509160.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509160.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4135,
          "endIntronDirection": "+",
          "endIntronOffset": 264,
          "referenceAllele": "G",
          "start": 4135,
          "startIntronDirection": "+",
          "startIntronOffset": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510859.1:c.3790+264G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509161.1:n.3790+264G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3919,
          "referenceAllele": "G",
          "start": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510860.1:c.3574G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509162.1:p.Gly1192Ser",
        "hgvsWellDefined": "XP_011509162.1:p.Gly1192Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3859,
          "endIntronDirection": "+",
          "endIntronOffset": 264,
          "referenceAllele": "G",
          "start": 3859,
          "startIntronDirection": "+",
          "startIntronOffset": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510861.1:c.3514+264G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509163.1:n.3514+264G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4195,
          "referenceAllele": "G",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510862.1:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509164.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509164.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4195,
          "referenceAllele": "G",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510863.1:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509165.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509165.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4195,
          "referenceAllele": "G",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510864.1:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509166.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509166.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4195,
          "referenceAllele": "G",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510865.1:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509167.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509167.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3918,
          "referenceAllele": "G",
          "start": 3917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510866.1:c.3574G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509168.1:p.Gly1192Ser",
        "hgvsWellDefined": "XP_011509168.1:p.Gly1192Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4191,
          "referenceAllele": "G",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510857.2:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509159.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509159.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4184,
          "referenceAllele": "G",
          "start": 4183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510863.3:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509165.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509165.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4183,
          "referenceAllele": "G",
          "start": 4182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510864.2:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509166.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509166.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4183,
          "referenceAllele": "G",
          "start": 4182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510865.2:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509167.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_011509167.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3906,
          "referenceAllele": "G",
          "start": 3905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_011510866.2:c.3574G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509168.1:p.Gly1192Ser",
        "hgvsWellDefined": "XP_011509168.1:p.Gly1192Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4191,
          "referenceAllele": "G",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_017003696.2:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859185.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_016859185.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4191,
          "referenceAllele": "G",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_017003697.2:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859186.1:p.Gly1284Ser",
        "hgvsWellDefined": "XP_016859186.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4129,
          "endIntronDirection": "+",
          "endIntronOffset": 264,
          "referenceAllele": "G",
          "start": 4129,
          "startIntronDirection": "+",
          "startIntronOffset": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_017003698.1:c.3790+264G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859187.1:n.3790+264G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3914,
          "referenceAllele": "G",
          "start": 3913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_017003699.1:c.3574G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859188.1:p.Gly1192Ser",
        "hgvsWellDefined": "XP_016859188.1:p.Gly1192Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3852,
          "endIntronDirection": "+",
          "endIntronOffset": 264,
          "referenceAllele": "G",
          "start": 3852,
          "startIntronDirection": "+",
          "startIntronOffset": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "XM_017003700.1:c.3514+264G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859189.1:n.3514+264G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980583",
      "coordinates": [
        {
          "allele": "A",
          "end": 4157,
          "referenceAllele": "G",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "NM_015311.3:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056126.1:p.Gly1284Ser",
        "hgvsWellDefined": "NP_056126.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404537.6:c.3850G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015311.3:c.3850G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385636.1:p.Gly1284Ser"
          },
          "RefSeq": {
            "hgvs": "NP_056126.1:p.Gly1284Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826087353",
      "coordinates": [
        {
          "allele": "A",
          "end": 4157,
          "referenceAllele": "G",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029092",
      "geneNCBI_id": 23363,
      "geneSymbol": "OBSL1",
      "hgvs": [
        "NM_001173431.2:c.3850G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166902.1:p.Gly1284Ser",
        "hgvsWellDefined": "NP_001166902.1:p.Gly1284Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678806"
    }
  ],
  "type": "nucleotide"
}