{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8365581",
  "communityStandardTitle": [
    "NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=512332[alleleid]",
        "alleleId": 512332,
        "preferredName": "NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/521653",
        "RCV": [
          "RCV000624057",
          "RCV001075746",
          "RCV003767829"
        ],
        "variationId": 521653
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-7907297-C-G",
        "id": "17-7907297-C-G",
        "variant": "17:7907297 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7907297C>G?assembly=hg19",
        "id": "chr17:g.7907297C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8003979C>G?assembly=hg38",
        "id": "chr17:g.8003979C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143745703",
        "rs": 143745703
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8003979-C-G?dataset=gnomad_r3",
        "id": "17-8003979-C-G",
        "variant": "17:8003979 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8003979-C-G?dataset=gnomad_r4",
        "id": "17-8003979-C-G",
        "variant": "17:8003979 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 8003979,
          "referenceAllele": "C",
          "start": 8003978
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8003979C>G",
        "CM000679.2:g.8003979C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7907297,
          "referenceAllele": "C",
          "start": 7907296
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7907297C>G",
        "CM000679.1:g.7907297C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7848022,
          "referenceAllele": "C",
          "start": 7848021
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7848022C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6310,
          "referenceAllele": "C",
          "start": 6309
        }
      ],
      "hgvs": [
        "NG_009092.1:g.6310C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001425"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.5:c.849C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Tyr283Ter",
        "hgvsWellDefined": "ENSP00000254854.4:p.Tyr283_Ser1103delinsAlaLeuSerProGlyProGluAlaLeuAlaAlaLeuAlaAsnSerSerGlnLeuArgArgAlaHisAspAlaValLeuThrLeuThrArgHisCysProSerGluGlySerValLeuAspSerLeuArgArgAlaGlnGluArgArgGluLeuProSerAspLeuAsnLeuGlnGlnValSerProLeuPheGlyThrIleTyrAspAlaValPheLeuLeuAlaArgGlyValAlaGluAlaArgAlaAlaAlaGlyGlyArgTrpValSerGlyAlaAlaValAlaArgHisIleArgAspAlaGlnValProGlyPheCysGlyAspLeuGlyGlyAspGluGluProProPheValLeuLeuAspThrAspAlaAlaGlyAspArgLeuPheAlaThrTyrMetLeuAspProAlaArgGlySerPheLeuSerAlaGlyThrArgMetHisPheProArgGlyGlySerAlaProGlyProAspProSerCysTrpPheAspProAsnAsnIleCysGlyGlyGlyLeuGluProGlyLeuValPheLeuGlyPheLeuLeuValValGlyMetGlyLeuAlaGlyAlaPheLeuAlaHisTyrValArgHisArgLeuLeuHisMetGlnMetValSerGlyProAsnLysIleIleLeuThrValAspAspIleThrPheLeuHisProHisGlyGlyThrSerArgLysValAlaGlnGlySerArgSerSerLeuGlyAlaArgSerMetSerAspIleArgSerGlyProSerGlnHisLeuAspSerProAsnIleGlyValTyrGluGlyAspArgValTrpLeuLysLysPheProGlyAspGlnHisIleAlaIleArgProAlaThrLysThrAlaPheSerLysLeuGlnGluLeuArgHisGluAsnValAlaLeuTyrLeuGlyLeuPheLeuAlaArgGlyAlaGluGlyProAlaAlaLeuTrpGluGlyAsnLeuAlaValValSerGluHisCysThrArgGlySerLeuGlnAspLeuLeuAlaGlnArgGluIleLysLeuAspTrpMetPheLysSerSerLeuLeuLeuAspLeuIleLysGlyIleArgTyrLeuHisHisArgGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741685",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.849C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.849C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Tyr283Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Tyr283Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.4:c.849C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Tyr283Ter",
        "hgvsWellDefined": "ENSP00000254854.4:p.Tyr283_Ser1103delinsAlaLeuSerProGlyProGluAlaLeuAlaAlaLeuAlaAsnSerSerGlnLeuArgArgAlaHisAspAlaValLeuThrLeuThrArgHisCysProSerGluGlySerValLeuAspSerLeuArgArgAlaGlnGluArgArgGluLeuProSerAspLeuAsnLeuGlnGlnValSerProLeuPheGlyThrIleTyrAspAlaValPheLeuLeuAlaArgGlyValAlaGluAlaArgAlaAlaAlaGlyGlyArgTrpValSerGlyAlaAlaValAlaArgHisIleArgAspAlaGlnValProGlyPheCysGlyAspLeuGlyGlyAspGluGluProProPheValLeuLeuAspThrAspAlaAlaGlyAspArgLeuPheAlaThrTyrMetLeuAspProAlaArgGlySerPheLeuSerAlaGlyThrArgMetHisPheProArgGlyGlySerAlaProGlyProAspProSerCysTrpPheAspProAsnAsnIleCysGlyGlyGlyLeuGluProGlyLeuValPheLeuGlyPheLeuLeuValValGlyMetGlyLeuAlaGlyAlaPheLeuAlaHisTyrValArgHisArgLeuLeuHisMetGlnMetValSerGlyProAsnLysIleIleLeuThrValAspAspIleThrPheLeuHisProHisGlyGlyThrSerArgLysValAlaGlnGlySerArgSerSerLeuGlyAlaArgSerMetSerAspIleArgSerGlyProSerGlnHisLeuAspSerProAsnIleGlyValTyrGluGlyAspArgValTrpLeuLysLysPheProGlyAspGlnHisIleAlaIleArgProAlaThrLysThrAlaPheSerLysLeuGlnGluLeuArgHisGluAsnValAlaLeuTyrLeuGlyLeuPheLeuAlaArgGlyAlaGluGlyProAlaAlaLeuTrpGluGlyAsnLeuAlaValValSerGluHisCysThrArgGlySerLeuGlnAspLeuLeuAlaGlnArgGluIleLysLeuAspTrpMetPheLysSerSerLeuLeuLeuAspLeuIleLysGlyIleArgTyrLeuHisHisArgGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658802615",
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.3:c.849C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Tyr283Ter",
        "hgvsWellDefined": "NP_000171.1:p.Tyr283_Ser1103delinsAlaLeuSerProGlyProGluAlaLeuAlaAlaLeuAlaAsnSerSerGlnLeuArgArgAlaHisAspAlaValLeuThrLeuThrArgHisCysProSerGluGlySerValLeuAspSerLeuArgArgAlaGlnGluArgArgGluLeuProSerAspLeuAsnLeuGlnGlnValSerProLeuPheGlyThrIleTyrAspAlaValPheLeuLeuAlaArgGlyValAlaGluAlaArgAlaAlaAlaGlyGlyArgTrpValSerGlyAlaAlaValAlaArgHisIleArgAspAlaGlnValProGlyPheCysGlyAspLeuGlyGlyAspGluGluProProPheValLeuLeuAspThrAspAlaAlaGlyAspArgLeuPheAlaThrTyrMetLeuAspProAlaArgGlySerPheLeuSerAlaGlyThrArgMetHisPheProArgGlyGlySerAlaProGlyProAspProSerCysTrpPheAspProAsnAsnIleCysGlyGlyGlyLeuGluProGlyLeuValPheLeuGlyPheLeuLeuValValGlyMetGlyLeuAlaGlyAlaPheLeuAlaHisTyrValArgHisArgLeuLeuHisMetGlnMetValSerGlyProAsnLysIleIleLeuThrValAspAspIleThrPheLeuHisProHisGlyGlyThrSerArgLysValAlaGlnGlySerArgSerSerLeuGlyAlaArgSerMetSerAspIleArgSerGlyProSerGlnHisLeuAspSerProAsnIleGlyValTyrGluGlyAspArgValTrpLeuLysLysPheProGlyAspGlnHisIleAlaIleArgProAlaThrLysThrAlaPheSerLysLeuGlnGluLeuArgHisGluAsnValAlaLeuTyrLeuGlyLeuPheLeuAlaArgGlyAlaGluGlyProAlaAlaLeuTrpGluGlyAsnLeuAlaValValSerGluHisCysThrArgGlySerLeuGlnAspLeuLeuAlaGlnArgGluIleLysLeuAspTrpMetPheLysSerSerLeuLeuLeuAspLeuIleLysGlyIleArgTyrLeuHisHisArgGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "XM_011523816.1:c.849C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522118.1:p.Tyr283Ter",
        "hgvsWellDefined": "XP_011522118.1:p.Tyr283_Ser1103delinsAlaLeuSerProGlyProGluAlaLeuAlaAlaLeuAlaAsnSerSerGlnLeuArgArgAlaHisAspAlaValLeuThrLeuThrArgHisCysProSerGluGlySerValLeuAspSerLeuArgArgAlaGlnGluArgArgGluLeuProSerAspLeuAsnLeuGlnGlnValSerProLeuPheGlyThrIleTyrAspAlaValPheLeuLeuAlaArgGlyValAlaGluAlaArgAlaAlaAlaGlyGlyArgTrpValSerGlyAlaAlaValAlaArgHisIleArgAspAlaGlnValProGlyPheCysGlyAspLeuGlyGlyAspGluGluProProPheValLeuLeuAspThrAspAlaAlaGlyAspArgLeuPheAlaThrTyrMetLeuAspProAlaArgGlySerPheLeuSerAlaGlyThrArgMetHisPheProArgGlyGlySerAlaProGlyProAspProSerCysTrpPheAspProAsnAsnIleCysGlyGlyGlyLeuGluProGlyLeuValPheLeuGlyPheLeuLeuValValGlyMetGlyLeuAlaGlyAlaPheLeuAlaHisTyrValArgHisArgLeuLeuHisMetGlnMetValSerGlyProAsnLysIleIleLeuThrValAspAspIleThrPheLeuHisProHisGlyGlyThrSerArgLysValAlaGlnGlySerArgSerSerLeuGlyAlaArgSerMetSerAspIleArgSerGlyProSerGlnHisLeuAspSerProAsnIleGlyValTyrGluGlyAspArgValTrpLeuLysLysPheProGlyAspGlnHisIleAlaIleArgProAlaThrLysThrAlaPheSerLysLeuGlnGluLeuArgHisGluAsnValAlaLeuTyrLeuGlyLeuPheLeuAlaArgGlyAlaGluGlyProAlaAlaLeuTrpGluGlyAsnLeuAlaValValSerGluHisCysThrArgGlySerLeuGlnAspLeuLeuAlaGlnArgGluIleLysLeuAspTrpMetPheLysSerSerLeuLeuLeuAspLeuIleLysGlyIleArgTyrLeuHisHisArgGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658802615",
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.4:c.849C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Tyr283Ter",
        "hgvsWellDefined": "NP_000171.1:p.Tyr283_Ser1103delinsAlaLeuSerProGlyProGluAlaLeuAlaAlaLeuAlaAsnSerSerGlnLeuArgArgAlaHisAspAlaValLeuThrLeuThrArgHisCysProSerGluGlySerValLeuAspSerLeuArgArgAlaGlnGluArgArgGluLeuProSerAspLeuAsnLeuGlnGlnValSerProLeuPheGlyThrIleTyrAspAlaValPheLeuLeuAlaArgGlyValAlaGluAlaArgAlaAlaAlaGlyGlyArgTrpValSerGlyAlaAlaValAlaArgHisIleArgAspAlaGlnValProGlyPheCysGlyAspLeuGlyGlyAspGluGluProProPheValLeuLeuAspThrAspAlaAlaGlyAspArgLeuPheAlaThrTyrMetLeuAspProAlaArgGlySerPheLeuSerAlaGlyThrArgMetHisPheProArgGlyGlySerAlaProGlyProAspProSerCysTrpPheAspProAsnAsnIleCysGlyGlyGlyLeuGluProGlyLeuValPheLeuGlyPheLeuLeuValValGlyMetGlyLeuAlaGlyAlaPheLeuAlaHisTyrValArgHisArgLeuLeuHisMetGlnMetValSerGlyProAsnLysIleIleLeuThrValAspAspIleThrPheLeuHisProHisGlyGlyThrSerArgLysValAlaGlnGlySerArgSerSerLeuGlyAlaArgSerMetSerAspIleArgSerGlyProSerGlnHisLeuAspSerProAsnIleGlyValTyrGluGlyAspArgValTrpLeuLysLysPheProGlyAspGlnHisIleAlaIleArgProAlaThrLysThrAlaPheSerLysLeuGlnGluLeuArgHisGluAsnValAlaLeuTyrLeuGlyLeuPheLeuAlaArgGlyAlaGluGlyProAlaAlaLeuTrpGluGlyAsnLeuAlaValValSerGluHisCysThrArgGlySerLeuGlnAspLeuLeuAlaGlnArgGluIleLysLeuAspTrpMetPheLysSerSerLeuLeuLeuAspLeuIleLysGlyIleArgTyrLeuHisHisArgGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.849C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.849C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Tyr283Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Tyr283Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}