{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA125915322",
  "communityStandardTitle": [
    "NM_000414.4(HSD17B4):c.46G>C (p.Gly16Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.118788316G>C?assembly=hg19",
        "id": "chr5:g.118788316G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.119452621G>C?assembly=hg38",
        "id": "chr5:g.119452621G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853096",
        "rs": 137853096
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 119452621,
          "referenceAllele": "G",
          "start": 119452620
        }
      ],
      "hgvs": [
        "NC_000005.10:g.119452621G>C",
        "CM000667.2:g.119452621G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 118788316,
          "referenceAllele": "G",
          "start": 118788315
        }
      ],
      "hgvs": [
        "NC_000005.9:g.118788316G>C",
        "CM000667.1:g.118788316G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 118816215,
          "referenceAllele": "G",
          "start": 118816214
        }
      ],
      "hgvs": [
        "NC_000005.8:g.118816215G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5169,
          "referenceAllele": "G",
          "start": 5168
        }
      ],
      "hgvs": [
        "NG_008182.1:g.5169G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000927"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000509514.6:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426272.2:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000426272.2:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000512841.6:n.87G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 101,
          "referenceAllele": "G",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000518349.6:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507185.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000507185.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108,
          "referenceAllele": "G",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000682445.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508061.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000508061.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000682996.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507792.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000507792.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "referenceAllele": "G",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000683371.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508376.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000508376.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 94,
          "referenceAllele": "G",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000683390.1:n.94G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000683936.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507721.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000507721.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000683974.1:n.128G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000684214.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508071.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000508071.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000414835.7:c.-133G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411960.3:n.-133G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000510025.7:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424940.3:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000424940.3:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758200",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000510025.7:c.46G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000414.4:c.46G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424940.3:p.Gly16Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000405.1:p.Gly16Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77,
          "referenceAllele": "G",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000644146.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494808.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000494808.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 84,
          "referenceAllele": "G",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000645832.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494316.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000494316.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768566"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "referenceAllele": "G",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000646058.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493579.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000493579.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000646590.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494892.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000494892.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000256216.10:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256216.6:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000256216.6:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000442060.7:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390208.3:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000390208.3:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 52,
          "referenceAllele": "G",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000504811.5:c.-133G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420914.1:n.-133G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 84,
          "referenceAllele": "G",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000510025.5:c.-92G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424940.1:n.-92G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 149,
          "referenceAllele": "G",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000511186.5:n.149G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000515235.6:n.106G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000515320.5:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424613.1:p.Gly16Arg",
        "hgvsWellDefined": "ENSP00000424613.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 57,
          "referenceAllele": "G",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "ENST00000519184.5:n.57G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948387",
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_000414.3:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000405.1:p.Gly16Arg",
        "hgvsWellDefined": "NP_000405.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001199291.2:c.-133G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186220.1:n.-133G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001199292.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186221.1:p.Gly16Arg",
        "hgvsWellDefined": "NP_001186221.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001292027.1:c.-92G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278956.1:n.-92G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001292028.1:c.-554G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278957.1:n.-554G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948387",
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_000414.4:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000405.1:p.Gly16Arg",
        "hgvsWellDefined": "NP_000405.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000510025.7:c.46G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000414.4:c.46G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424940.3:p.Gly16Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000405.1:p.Gly16Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001199291.3:c.-133G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186220.1:n.-133G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001199292.2:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186221.1:p.Gly16Arg",
        "hgvsWellDefined": "NP_001186221.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001292027.2:c.-92G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278956.1:n.-92G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001292028.2:c.-554G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278957.1:n.-554G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001374497.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361426.1:p.Gly16Arg",
        "hgvsWellDefined": "NP_001361426.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001374498.1:c.46G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361427.1:p.Gly16Arg",
        "hgvsWellDefined": "NP_001361427.1:p.Gly16Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001374499.1:c.-488G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361428.1:n.-488G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001374500.1:c.-681G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361429.1:n.-681G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001374501.1:c.-554G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361430.1:n.-554G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001374502.1:c.-559G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361431.1:n.-559G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NM_001374503.1:c.-624G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361432.1:n.-624G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NR_164653.1:n.125G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005213",
      "geneNCBI_id": 3295,
      "geneSymbol": "HSD17B4",
      "hgvs": [
        "NR_164654.1:n.125G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705754"
    }
  ],
  "type": "nucleotide"
}