{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373443720",
  "communityStandardTitle": [
    "NM_012203.2(GRHPR):c.622C>T (p.Gln208Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3009988[alleleid]",
        "alleleId": 3009988,
        "preferredName": "NM_012203.2(GRHPR):c.622C>T (p.Gln208Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2852344",
        "RCV": [
          "RCV003693539"
        ],
        "variationId": 2852344
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37430531C>T?assembly=hg19",
        "id": "chr9:g.37430531C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37430534C>T?assembly=hg38",
        "id": "chr9:g.37430534C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2489245051",
        "rs": 2489245051
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37430534,
          "referenceAllele": "C",
          "start": 37430533
        }
      ],
      "hgvs": [
        "NC_000009.12:g.37430534C>T",
        "CM000671.2:g.37430534C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37430531,
          "referenceAllele": "C",
          "start": 37430530
        }
      ],
      "hgvs": [
        "NC_000009.11:g.37430531C>T",
        "CM000671.1:g.37430531C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37420531,
          "referenceAllele": "C",
          "start": 37420530
        }
      ],
      "hgvs": [
        "NC_000009.10:g.37420531C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12825,
          "referenceAllele": "C",
          "start": 12824
        }
      ],
      "hgvs": [
        "NG_008135.1:g.12825C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.11:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Gln208Ter",
        "hgvsWellDefined": "ENSP00000313432.6:p.Gln208_Leu328delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.622C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.622C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Gln208Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Gln208Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.10:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Gln208Ter",
        "hgvsWellDefined": "ENSP00000313432.6:p.Gln208_Leu328delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000377824.8:n.659C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000460882.5:n.649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000480596.5:n.1323C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 75,
          "referenceAllele": "C",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000482603.1:n.75C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000491488.5:n.327C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000494290.1:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432021.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000432021.1:p.Gln65_Ser252delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgTyrProArgAlaThrLeuProSerLysProGlyGluGluProSerProLeuLeuProSerGlyAspPheLeuProArgGlyLeuLeuValArgProGlnAlaGluLeuAlaGlyPheHisLysProAsnAsnGlnLeuArgAsnSerTrpGluTyrThrArgProProTyrArgGluGluGluProSerGluTrpAlaTrpProValCysPheSerAlaValAlaProThrArgArgGlyLeuAlaHisSerSerValAlaSerGlySerValProArgGluProLeuGlnAlaHisTyrProProProGlnArgAlaGlyLeuGluAspLeuLysGlyProLeuGluAlaAlaSerHisThrAlaGluProGlyPheValTrpLeuTrpPheSerAspThrLeuAsnLeuMetLeuLeuGlyGlyGlnThrLeuLysLeuThrTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2829,
          "referenceAllele": "C",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000497693.1:n.2829C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000607784.1:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475569.1:p.Gln208Ter",
        "hgvsWellDefined": "ENSP00000475569.1:p.Gln208_Ser358delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysGlyProGlyIleGlnLeuThrAlaTrpGlyLeuLeuGlnLysAlaGlyLeuGlyLeuArgArgGlyGlnSerGlyHisGluAlaAlaAlaAlaThrAlaAlaSerThrLysSerLysHisTrpAlaAlaAlaMetSerTyrCysGlnGlnGluGlyLysAspAlaIleIleCysAspValLysArgProCysSerSerLysGlnHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741937893",
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.1:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Gln208Ter",
        "hgvsWellDefined": "NP_036335.1:p.Gln208_Leu328delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 356,
          "referenceAllele": "C",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_005251631.1:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251688.1:p.Gln101Ter",
        "hgvsWellDefined": "XP_005251688.1:p.Gln101_Leu221delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_011518073.1:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516375.1:p.Gln74Ter",
        "hgvsWellDefined": "XP_011516375.1:p.Gln74_Leu194delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_929374.1:n.1067C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015320.2:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870809.1:p.Gln208Ter",
        "hgvsWellDefined": "XP_016870809.1:p.Gln208_Ser338delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspGlyProGluPheCysHisPheGluIleMetCysTyrSerIleSerAlaThrLysAsnHisTyrProGlyMetPheLeuIleProSerLeuValProHisGlnGlyArgAspLysGlnAsnProValValThrMetAlaLeuGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015321.2:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870810.1:p.Gln208Ter",
        "hgvsWellDefined": "XP_016870810.1:p.Gln208_Thr309delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspSerPheThrCysProSerProArgThrGlyGlnThrGluProSerCysAspHisGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015323.2:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870812.1:p.Gln74Ter",
        "hgvsWellDefined": "XP_016870812.1:p.Gln74_Ser204delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspGlyProGluPheCysHisPheGluIleMetCysTyrSerIleSerAlaThrLysAsnHisTyrProGlyMetPheLeuIleProSerLeuValProHisGlnGlyArgAspLysGlnAsnProValValThrMetAlaLeuGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447716.1:c.895C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303484.1:p.Gln299Ter",
        "hgvsWellDefined": "XP_024303484.1:p.Gln299_Ser429delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspGlyProGluPheCysHisPheGluIleMetCysTyrSerIleSerAlaThrLysAsnHisTyrProGlyMetPheLeuIleProSerLeuValProHisGlnGlyArgAspLysGlnAsnProValValThrMetAlaLeuGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447717.1:c.895C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303485.1:p.Gln299Ter",
        "hgvsWellDefined": "XP_024303485.1:p.Gln299_Thr400delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspSerPheThrCysProSerProArgThrGlyGlnThrGluProSerCysAspHisGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956828.1:n.910C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956829.1:n.910C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956830.1:n.681C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 356,
          "referenceAllele": "C",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956831.1:n.356C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956832.1:n.1041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741937893",
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.2:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Gln208Ter",
        "hgvsWellDefined": "NP_036335.1:p.Gln208_Leu328delinsSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.622C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.622C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Gln208Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Gln208Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}