{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4304310",
  "communityStandardTitle": [
    "NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)",
    "NM_001395413.1(POR):c.1825C>T (p.Gln609Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1315218[alleleid]",
        "alleleId": 1315218,
        "preferredName": "NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1324955",
        "RCV": [
          "RCV001782675",
          "RCV003136154",
          "RCV002541209"
        ],
        "variationId": 1324955
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-75615486-C-T",
        "id": "7-75615486-C-T",
        "variant": "7:75615486 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.75615486C>T?assembly=hg19",
        "id": "chr7:g.75615486C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.75986168C>T?assembly=hg38",
        "id": "chr7:g.75986168C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782261248",
        "rs": 782261248
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-75615486-C-T?dataset=gnomad_r2_1",
        "id": "7-75615486-C-T",
        "variant": "7:75615486 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-75986168-C-T?dataset=gnomad_r3",
        "id": "7-75986168-C-T",
        "variant": "7:75986168 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-75986168-C-T?dataset=gnomad_r4",
        "id": "7-75986168-C-T",
        "variant": "7:75986168 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 75986168,
          "referenceAllele": "C",
          "start": 75986167
        }
      ],
      "hgvs": [
        "NC_000007.14:g.75986168C>T",
        "CM000669.2:g.75986168C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 75615486,
          "referenceAllele": "C",
          "start": 75615485
        }
      ],
      "hgvs": [
        "NC_000007.13:g.75615486C>T",
        "CM000669.1:g.75615486C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 75453422,
          "referenceAllele": "C",
          "start": 75453421
        }
      ],
      "hgvs": [
        "NC_000007.12:g.75453422C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76067,
          "referenceAllele": "C",
          "start": 76066
        }
      ],
      "hgvs": [
        "NG_008930.1:g.76067C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001308"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000475509.2:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516446.1:p.Gln534Ter",
        "hgvsWellDefined": "ENSP00000516446.1:p.Gln534_Ser605delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1823,
          "referenceAllele": "C",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000706544.1:c.1726C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516442.1:p.Gln576Ter",
        "hgvsWellDefined": "ENSP00000516442.1:p.Gln576_Ser647delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1959,
          "referenceAllele": "C",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000706545.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516443.1:p.Gln609Ter",
        "hgvsWellDefined": "ENSP00000516443.1:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2325,
          "referenceAllele": "C",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000706546.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516444.1:p.Gln609Ter",
        "hgvsWellDefined": "ENSP00000516444.1:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "referenceAllele": "C",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000706547.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516445.1:p.Gln609Ter",
        "hgvsWellDefined": "ENSP00000516445.1:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1854,
          "referenceAllele": "C",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000461988.6:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419970.1:p.Gln609Ter",
        "hgvsWellDefined": "ENSP00000419970.1:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000461988.6:c.1825C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001395413.1:c.1825C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419970.2:p.Gln609Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001382342.1:p.Gln609Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1845,
          "referenceAllele": "C",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000394893.5:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378355.1:p.Gln609Ter",
        "hgvsWellDefined": "ENSP00000378355.1:p.Gln609_Gly633delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000412064.6:c.*127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404731.2:n.*127C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000439269.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412490.1:p.Gln347Ter",
        "hgvsWellDefined": "ENSP00000412490.1:p.Gln347_Ser418delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1976,
          "referenceAllele": "C",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000447222.5:c.1976C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1704,
          "referenceAllele": "C",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000454934.5:c.*1130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414263.1:n.*1130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "C",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000461988.5:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419970.1:p.Gln609Ter",
        "hgvsWellDefined": "ENSP00000419970.1:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "ENST00000493973.1:n.436C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_000941.2:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000932.3:p.Gln609Ter",
        "hgvsWellDefined": "NP_000932.3:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1854,
          "referenceAllele": "C",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_000941.3:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000932.3:p.Gln609Ter",
        "hgvsWellDefined": "NP_000932.3:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1961,
          "referenceAllele": "C",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001367562.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354491.1:p.Gln609Ter",
        "hgvsWellDefined": "NP_001354491.1:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573077106",
      "coordinates": [
        {
          "allele": "T",
          "end": 1908,
          "referenceAllele": "C",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382655.1:c.1879C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369584.1:p.Gln627Ter",
        "hgvsWellDefined": "NP_001369584.1:p.Gln627_Ser698delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1953,
          "referenceAllele": "C",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382657.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369586.1:p.Gln609Ter",
        "hgvsWellDefined": "NP_001369586.1:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "referenceAllele": "C",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382658.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369587.1:p.Gln609Ter",
        "hgvsWellDefined": "NP_001369587.1:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1888,
          "referenceAllele": "C",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382659.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369588.1:p.Gln609Ter",
        "hgvsWellDefined": "NP_001369588.1:p.Gln609_Ser680delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2191,
          "referenceAllele": "C",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382662.1:c.1675C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369591.1:p.Gln559Ter",
        "hgvsWellDefined": "NP_001369591.1:p.Gln559_Ser630delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828240893",
      "coordinates": [
        {
          "allele": "T",
          "end": 1961,
          "referenceAllele": "C",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001367562.3:c.1816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354491.2:p.Gln606Ter",
        "hgvsWellDefined": "NP_001354491.2:p.Gln606_Ser677delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781989"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573216009",
      "coordinates": [
        {
          "allele": "T",
          "end": 1908,
          "referenceAllele": "C",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382655.3:c.1870C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369584.2:p.Gln624Ter",
        "hgvsWellDefined": "NP_001369584.2:p.Gln624_Ser695delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828912570",
      "coordinates": [
        {
          "allele": "T",
          "end": 1953,
          "referenceAllele": "C",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382657.2:c.1816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369586.2:p.Gln606Ter",
        "hgvsWellDefined": "NP_001369586.2:p.Gln606_Ser677delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828913016",
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "referenceAllele": "C",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382658.3:c.1816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369587.2:p.Gln606Ter",
        "hgvsWellDefined": "NP_001369587.2:p.Gln606_Ser677delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828913462",
      "coordinates": [
        {
          "allele": "T",
          "end": 1888,
          "referenceAllele": "C",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382659.3:c.1816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369588.2:p.Gln606Ter",
        "hgvsWellDefined": "NP_001369588.2:p.Gln606_Ser677delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828913898",
      "coordinates": [
        {
          "allele": "T",
          "end": 2191,
          "referenceAllele": "C",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382662.3:c.1666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369591.2:p.Gln556Ter",
        "hgvsWellDefined": "NP_001369591.2:p.Gln556_Ser627delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829245743",
      "coordinates": [
        {
          "allele": "T",
          "end": 1854,
          "referenceAllele": "C",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001395413.1:c.1816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382342.1:p.Gln606Ter",
        "hgvsWellDefined": "NP_001382342.1:p.Gln606_Ser677delinsHisLeuLeuLysGlnAspArgGluHisLeuTrpLysLeuIleGluGlyGlyAlaHisIleTyrValCysGlyAspAlaArgAsnMetAlaArgAspValGlnAsnThrPheTyrAspIleValAlaGluLeuGlyAlaMetGluHisAlaGlnAlaValAspTyrIleLysLysLeuMetThrLysGlyArgTyrSerLeuAspValTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000461988.6:c.1816C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001395413.1:c.1816C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419970.2:p.Gln606Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001382342.1:p.Gln606Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}