{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041980",
  "communityStandardTitle": [
    "NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358612[alleleid]",
        "alleleId": 358612,
        "preferredName": "NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370800",
        "RCV": [
          "RCV000412259",
          "RCV001861377"
        ],
        "variationId": 370800
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36339049C>T?assembly=hg19",
        "id": "chr19:g.36339049C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35848147C>T?assembly=hg38",
        "id": "chr19:g.35848147C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516776",
        "rs": 1057516776
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 35848147,
          "referenceAllele": "C",
          "start": 35848146
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35848147C>T",
        "CM000681.2:g.35848147C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 36339049,
          "referenceAllele": "C",
          "start": 36339048
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36339049C>T",
        "CM000681.1:g.36339049C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41030889,
          "referenceAllele": "C",
          "start": 41030888
        }
      ],
      "hgvs": [
        "NC_000019.8:g.41030889C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26141,
          "referenceAllele": "G",
          "start": 26140
        }
      ],
      "hgvs": [
        "NG_013356.2:g.26141G>A",
        "LRG_693:g.26141G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "referenceAllele": "C",
          "start": 1512
        }
      ],
      "hgvs": [
        "NG_051206.1:g.1513C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616904"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "G",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.10:c.1334G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Trp445Ter",
        "hgvsWellDefined": "ENSP00000368190.4:p.Trp445_Val1241delinsIleGluGlyProProGluGlyGlnLysLeuArgAlaGlyThrArgValArgLeuValCysLeuAlaIleGlyGlyAsnProGluProSerLeuMetTrpTyrLysAspSerArgThrValThrGluSerArgLeuProGlnGluSerArgArgValHisLeuGlySerValGluLysSerGlySerThrPheSerArgGluLeuValLeuValThrGlyProSerAspAsnGlnAlaLysPheThrCysLysAlaGlyGlnLeuSerAlaSerThrGlnLeuAlaValGlnPheProProThrAsnValThrIleLeuAlaAsnAlaSerAlaLeuArgProGlyAspAlaLeuAsnLeuThrCysValSerValSerSerAsnProProValAsnLeuSerTrpAspLysGluGlyGluArgLeuGluGlyValAlaAlaProProArgArgAlaProPheLysGlySerAlaAlaAlaArgSerValLeuLeuGlnValSerSerArgAspHisGlyGlnArgValThrCysArgAlaHisSerAlaGluLeuArgGluThrValSerSerPheTyrArgLeuAsnValLeuTyrArgProGluPheLeuGlyGluGlnValLeuValValThrAlaValGluGlnGlyGluAlaLeuLeuProValSerValSerAlaAsnProAlaProGluAlaPheAsnTrpThrPheArgGlyTyrArgLeuSerProAlaGlyGlyProArgHisArgIleLeuSerSerGlyAlaLeuHisLeuTrpAsnValThrArgAlaAspAspGlyLeuTyrGlnLeuHisCysGlnAsnSerGluGlyThrAlaGluAlaArgLeuArgLeuAspValHisTyrAlaProThrIleArgAlaLeuGlnAspProThrGluValAsnValGlyGlySerValAspIleValCysThrValAspAlaAsnProIleLeuProGlyMetPheAsnTrpGluArgLeuGlyGluAspGluGluAspGlnSerLeuAspAspMetGluLysIleSerArgGlyProThrGlyArgLeuArgIleHisHisAlaLysLeuAlaGlnAlaGlyAlaTyrGlnCysIleValAspAsnGlyValAlaProProAlaArgArgLeuLeuArgLeuValValArgPheAlaProGlnValGluHisProThrProLeuThrLysValAlaAlaAlaGlyAspSerThrSerSerAlaThrLeuHisCysArgAlaArgGlyValProAsnIleValPheThrTrpThrLysAsnGlyValProLeuAspLeuGlnAspProArgTyrThrGluHisThrTyrHisGlnGlyGlyValHisSerSerLeuLeuThrIleAlaAsnValSerAlaAlaGlnAspTyrAlaLeuPheThrCysThrAlaThrAsnAlaLeuGlySerAspGlnThrAsnIleGlnLeuValSerIleSerArgProAspProProSerGlyLeuLysValValSerLeuThrProHisSerValGlyLeuGluTrpLysProGlyPheAspGlyGlyLeuProGlnArgPheCysIleArgTyrGluAlaLeuGlyThrProGlyPheHisTyrValAspValValProProGlnAlaThrThrPheThrLeuThrGlyLeuGlnProSerThrArgTyrArgValTrpLeuLeuAlaSerAsnAlaLeuGlyAspSerGlyLeuAlaAspLysGlyThrGlnLeuProIleThrThrProGlyLeuHisGlnProSerGlyGluProGluAspGlnLeuProThrGluProProSerGlyProSerGlyLeuProLeuLeuProValLeuPheAlaLeuGlyGlyLeuLeuLeuLeuSerAsnAlaSerCysValGlyGlyValLeuTrpGlnArgArgLeuArgArgLeuAlaGluGlyIleSerGluLysThrGluAlaGlySerGluGluAspArgValArgAsnGluTyrGluGluSerGlnTrpThrGlyGluArgAspThrGlnSerSerThrValSerThrThrGluAlaGluProTyrTyrArgSerLeuArgAspPheSerProGlnLeuProProThrGlnGluGluValSerTyrSerArgGlyPheThrGlyGluAspGluAspMetAlaPheProGlyHisLeuTyrAspGluValGluArgThrTyrProProSerGlyAlaTrpGlyProLeuTyrAspGluValGlnMetGlyProTrpAspLeuHisTrpProGluAspThrTyrGlnAspProArgGlyIleTyrAspGlnValAlaGlyAspLeuAspThrLeuGluProAspSerLeuProPheGluLeuArgGlyHisLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.1334G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.1334G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Trp445Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Trp445Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000353632.6:c.1334G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343634.5:p.Trp445Ter",
        "hgvsWellDefined": "ENSP00000343634.5:p.Trp445_Val1201delinsIleGluGlyProProGluGlyGlnLysLeuArgAlaGlyThrArgValArgLeuValCysLeuAlaIleGlyGlyAsnProGluProSerLeuMetTrpTyrLysAspSerArgThrValThrGluSerArgLeuProGlnGluSerArgArgValHisLeuGlySerValGluLysSerGlySerThrPheSerArgGluLeuValLeuValThrGlyProSerAspAsnGlnAlaLysPheThrCysLysAlaGlyGlnLeuSerAlaSerThrGlnLeuAlaValGlnPheProProThrAsnValThrIleLeuAlaAsnAlaSerAlaLeuArgProGlyAspAlaLeuAsnLeuThrCysValSerValSerSerAsnProProValAsnLeuSerTrpAspLysGluGlyGluArgLeuGluGlyValAlaAlaProProArgArgAlaProPheLysGlySerAlaAlaAlaArgSerValLeuLeuGlnValSerSerArgAspHisGlyGlnArgValThrCysArgAlaHisSerAlaGluLeuArgGluThrValSerSerPheTyrArgLeuAsnValLeuTyrArgProGluPheLeuGlyGluGlnValLeuValValThrAlaValGluGlnGlyGluAlaLeuLeuProValSerValSerAlaAsnProAlaProGluAlaPheAsnTrpThrPheArgGlyTyrArgLeuSerProAlaGlyGlyProArgHisArgIleLeuSerSerGlyAlaLeuHisLeuTrpAsnValThrArgAlaAspAspGlyLeuTyrGlnLeuHisCysGlnAsnSerGluGlyThrAlaGluAlaArgLeuArgLeuAspValHisTyrAlaProThrIleArgAlaLeuGlnAspProThrGluValAsnValGlyGlySerValAspIleValCysThrValAspAlaAsnProIleLeuProGlyMetPheAsnTrpGluArgLeuGlyGluAspGluGluAspGlnSerLeuAspAspMetGluLysIleSerArgGlyProThrGlyArgLeuArgIleHisHisAlaLysLeuAlaGlnAlaGlyAlaTyrGlnCysIleValAspAsnGlyValAlaProProAlaArgArgLeuLeuArgLeuValValArgPheAlaProGlnValGluHisProThrProLeuThrLysValAlaAlaAlaGlyAspSerThrSerSerAlaThrLeuHisCysArgAlaArgGlyValProAsnIleValPheThrTrpThrLysAsnGlyValProLeuAspLeuGlnAspProArgTyrThrGluHisThrTyrHisGlnGlyGlyValHisSerSerLeuLeuThrIleAlaAsnValSerAlaAlaGlnAspTyrAlaLeuPheThrCysThrAlaThrAsnAlaLeuGlySerAspGlnThrAsnIleGlnLeuValSerIleSerArgProAspProProSerGlyLeuLysValValSerLeuThrProHisSerValGlyLeuGluTrpLysProGlyPheAspGlyGlyLeuProGlnArgPheCysIleArgTyrGluAlaLeuGlyThrProGlyPheHisTyrValAspValValProProGlnAlaThrThrPheThrLeuThrGlyLeuGlnProSerThrArgTyrArgValTrpLeuLeuAlaSerAsnAlaLeuGlyAspSerGlyLeuAlaAspLysGlyThrGlnLeuProIleThrThrProGlyLeuHisGlnProSerGlyGluProGluAspGlnLeuProThrGluProProSerGlyIleSerGluLysThrGluAlaGlySerGluGluAspArgValArgAsnGluTyrGluGluSerGlnTrpThrGlyGluArgAspThrGlnSerSerThrValSerThrThrGluAlaGluProTyrTyrArgSerLeuArgAspPheSerProGlnLeuProProThrGlnGluGluValSerTyrSerArgGlyPheThrGlyGluAspGluAspMetAlaPheProGlyHisLeuTyrAspGluValGluArgThrTyrProProSerGlyAlaTrpGlyProLeuTyrAspGluValGlnMetGlyProTrpAspLeuHisTrpProGluAspThrTyrGlnAspProArgGlyIleTyrAspGlnValAlaGlyAspLeuAspThrLeuGluProAspSerLeuProPheGluLeuArgGlyHisLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.9:c.1334G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Trp445Ter",
        "hgvsWellDefined": "ENSP00000368190.4:p.Trp445_Val1241delinsIleGluGlyProProGluGlyGlnLysLeuArgAlaGlyThrArgValArgLeuValCysLeuAlaIleGlyGlyAsnProGluProSerLeuMetTrpTyrLysAspSerArgThrValThrGluSerArgLeuProGlnGluSerArgArgValHisLeuGlySerValGluLysSerGlySerThrPheSerArgGluLeuValLeuValThrGlyProSerAspAsnGlnAlaLysPheThrCysLysAlaGlyGlnLeuSerAlaSerThrGlnLeuAlaValGlnPheProProThrAsnValThrIleLeuAlaAsnAlaSerAlaLeuArgProGlyAspAlaLeuAsnLeuThrCysValSerValSerSerAsnProProValAsnLeuSerTrpAspLysGluGlyGluArgLeuGluGlyValAlaAlaProProArgArgAlaProPheLysGlySerAlaAlaAlaArgSerValLeuLeuGlnValSerSerArgAspHisGlyGlnArgValThrCysArgAlaHisSerAlaGluLeuArgGluThrValSerSerPheTyrArgLeuAsnValLeuTyrArgProGluPheLeuGlyGluGlnValLeuValValThrAlaValGluGlnGlyGluAlaLeuLeuProValSerValSerAlaAsnProAlaProGluAlaPheAsnTrpThrPheArgGlyTyrArgLeuSerProAlaGlyGlyProArgHisArgIleLeuSerSerGlyAlaLeuHisLeuTrpAsnValThrArgAlaAspAspGlyLeuTyrGlnLeuHisCysGlnAsnSerGluGlyThrAlaGluAlaArgLeuArgLeuAspValHisTyrAlaProThrIleArgAlaLeuGlnAspProThrGluValAsnValGlyGlySerValAspIleValCysThrValAspAlaAsnProIleLeuProGlyMetPheAsnTrpGluArgLeuGlyGluAspGluGluAspGlnSerLeuAspAspMetGluLysIleSerArgGlyProThrGlyArgLeuArgIleHisHisAlaLysLeuAlaGlnAlaGlyAlaTyrGlnCysIleValAspAsnGlyValAlaProProAlaArgArgLeuLeuArgLeuValValArgPheAlaProGlnValGluHisProThrProLeuThrLysValAlaAlaAlaGlyAspSerThrSerSerAlaThrLeuHisCysArgAlaArgGlyValProAsnIleValPheThrTrpThrLysAsnGlyValProLeuAspLeuGlnAspProArgTyrThrGluHisThrTyrHisGlnGlyGlyValHisSerSerLeuLeuThrIleAlaAsnValSerAlaAlaGlnAspTyrAlaLeuPheThrCysThrAlaThrAsnAlaLeuGlySerAspGlnThrAsnIleGlnLeuValSerIleSerArgProAspProProSerGlyLeuLysValValSerLeuThrProHisSerValGlyLeuGluTrpLysProGlyPheAspGlyGlyLeuProGlnArgPheCysIleArgTyrGluAlaLeuGlyThrProGlyPheHisTyrValAspValValProProGlnAlaThrThrPheThrLeuThrGlyLeuGlnProSerThrArgTyrArgValTrpLeuLeuAlaSerAsnAlaLeuGlyAspSerGlyLeuAlaAspLysGlyThrGlnLeuProIleThrThrProGlyLeuHisGlnProSerGlyGluProGluAspGlnLeuProThrGluProProSerGlyProSerGlyLeuProLeuLeuProValLeuPheAlaLeuGlyGlyLeuLeuLeuLeuSerAsnAlaSerCysValGlyGlyValLeuTrpGlnArgArgLeuArgArgLeuAlaGluGlyIleSerGluLysThrGluAlaGlySerGluGluAspArgValArgAsnGluTyrGluGluSerGlnTrpThrGlyGluArgAspThrGlnSerSerThrValSerThrThrGluAlaGluProTyrTyrArgSerLeuArgAspPheSerProGlnLeuProProThrGlnGluGluValSerTyrSerArgGlyPheThrGlyGluAspGluAspMetAlaPheProGlyHisLeuTyrAspGluValGluArgThrTyrProProSerGlyAlaTrpGlyProLeuTyrAspGluValGlnMetGlyProTrpAspLeuHisTrpProGluAspThrTyrGlnAspProArgGlyIleTyrAspGlnValAlaGlyAspLeuAspThrLeuGluProAspSerLeuProPheGluLeuArgGlyHisLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 341,
          "referenceAllele": "G",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000592132.1:n.341G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645375424",
      "coordinates": [
        {
          "allele": "A",
          "end": 1490,
          "referenceAllele": "G",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.3:c.1334G>A",
        "LRG_693t1:c.1334G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Trp445Ter",
        "hgvsWellDefined": "NP_004637.1:p.Trp445_Val1241delinsIleGluGlyProProGluGlyGlnLysLeuArgAlaGlyThrArgValArgLeuValCysLeuAlaIleGlyGlyAsnProGluProSerLeuMetTrpTyrLysAspSerArgThrValThrGluSerArgLeuProGlnGluSerArgArgValHisLeuGlySerValGluLysSerGlySerThrPheSerArgGluLeuValLeuValThrGlyProSerAspAsnGlnAlaLysPheThrCysLysAlaGlyGlnLeuSerAlaSerThrGlnLeuAlaValGlnPheProProThrAsnValThrIleLeuAlaAsnAlaSerAlaLeuArgProGlyAspAlaLeuAsnLeuThrCysValSerValSerSerAsnProProValAsnLeuSerTrpAspLysGluGlyGluArgLeuGluGlyValAlaAlaProProArgArgAlaProPheLysGlySerAlaAlaAlaArgSerValLeuLeuGlnValSerSerArgAspHisGlyGlnArgValThrCysArgAlaHisSerAlaGluLeuArgGluThrValSerSerPheTyrArgLeuAsnValLeuTyrArgProGluPheLeuGlyGluGlnValLeuValValThrAlaValGluGlnGlyGluAlaLeuLeuProValSerValSerAlaAsnProAlaProGluAlaPheAsnTrpThrPheArgGlyTyrArgLeuSerProAlaGlyGlyProArgHisArgIleLeuSerSerGlyAlaLeuHisLeuTrpAsnValThrArgAlaAspAspGlyLeuTyrGlnLeuHisCysGlnAsnSerGluGlyThrAlaGluAlaArgLeuArgLeuAspValHisTyrAlaProThrIleArgAlaLeuGlnAspProThrGluValAsnValGlyGlySerValAspIleValCysThrValAspAlaAsnProIleLeuProGlyMetPheAsnTrpGluArgLeuGlyGluAspGluGluAspGlnSerLeuAspAspMetGluLysIleSerArgGlyProThrGlyArgLeuArgIleHisHisAlaLysLeuAlaGlnAlaGlyAlaTyrGlnCysIleValAspAsnGlyValAlaProProAlaArgArgLeuLeuArgLeuValValArgPheAlaProGlnValGluHisProThrProLeuThrLysValAlaAlaAlaGlyAspSerThrSerSerAlaThrLeuHisCysArgAlaArgGlyValProAsnIleValPheThrTrpThrLysAsnGlyValProLeuAspLeuGlnAspProArgTyrThrGluHisThrTyrHisGlnGlyGlyValHisSerSerLeuLeuThrIleAlaAsnValSerAlaAlaGlnAspTyrAlaLeuPheThrCysThrAlaThrAsnAlaLeuGlySerAspGlnThrAsnIleGlnLeuValSerIleSerArgProAspProProSerGlyLeuLysValValSerLeuThrProHisSerValGlyLeuGluTrpLysProGlyPheAspGlyGlyLeuProGlnArgPheCysIleArgTyrGluAlaLeuGlyThrProGlyPheHisTyrValAspValValProProGlnAlaThrThrPheThrLeuThrGlyLeuGlnProSerThrArgTyrArgValTrpLeuLeuAlaSerAsnAlaLeuGlyAspSerGlyLeuAlaAspLysGlyThrGlnLeuProIleThrThrProGlyLeuHisGlnProSerGlyGluProGluAspGlnLeuProThrGluProProSerGlyProSerGlyLeuProLeuLeuProValLeuPheAlaLeuGlyGlyLeuLeuLeuLeuSerAsnAlaSerCysValGlyGlyValLeuTrpGlnArgArgLeuArgArgLeuAlaGluGlyIleSerGluLysThrGluAlaGlySerGluGluAspArgValArgAsnGluTyrGluGluSerGlnTrpThrGlyGluArgAspThrGlnSerSerThrValSerThrThrGluAlaGluProTyrTyrArgSerLeuArgAspPheSerProGlnLeuProProThrGlnGluGluValSerTyrSerArgGlyPheThrGlyGluAspGluAspMetAlaPheProGlyHisLeuTyrAspGluValGluArgThrTyrProProSerGlyAlaTrpGlyProLeuTyrAspGluValGlnMetGlyProTrpAspLeuHisTrpProGluAspThrTyrGlnAspProArgGlyIleTyrAspGlnValAlaGlyAspLeuAspThrLeuGluProAspSerLeuProPheGluLeuArgGlyHisLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645375424",
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "G",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.4:c.1334G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Trp445Ter",
        "hgvsWellDefined": "NP_004637.1:p.Trp445_Val1241delinsIleGluGlyProProGluGlyGlnLysLeuArgAlaGlyThrArgValArgLeuValCysLeuAlaIleGlyGlyAsnProGluProSerLeuMetTrpTyrLysAspSerArgThrValThrGluSerArgLeuProGlnGluSerArgArgValHisLeuGlySerValGluLysSerGlySerThrPheSerArgGluLeuValLeuValThrGlyProSerAspAsnGlnAlaLysPheThrCysLysAlaGlyGlnLeuSerAlaSerThrGlnLeuAlaValGlnPheProProThrAsnValThrIleLeuAlaAsnAlaSerAlaLeuArgProGlyAspAlaLeuAsnLeuThrCysValSerValSerSerAsnProProValAsnLeuSerTrpAspLysGluGlyGluArgLeuGluGlyValAlaAlaProProArgArgAlaProPheLysGlySerAlaAlaAlaArgSerValLeuLeuGlnValSerSerArgAspHisGlyGlnArgValThrCysArgAlaHisSerAlaGluLeuArgGluThrValSerSerPheTyrArgLeuAsnValLeuTyrArgProGluPheLeuGlyGluGlnValLeuValValThrAlaValGluGlnGlyGluAlaLeuLeuProValSerValSerAlaAsnProAlaProGluAlaPheAsnTrpThrPheArgGlyTyrArgLeuSerProAlaGlyGlyProArgHisArgIleLeuSerSerGlyAlaLeuHisLeuTrpAsnValThrArgAlaAspAspGlyLeuTyrGlnLeuHisCysGlnAsnSerGluGlyThrAlaGluAlaArgLeuArgLeuAspValHisTyrAlaProThrIleArgAlaLeuGlnAspProThrGluValAsnValGlyGlySerValAspIleValCysThrValAspAlaAsnProIleLeuProGlyMetPheAsnTrpGluArgLeuGlyGluAspGluGluAspGlnSerLeuAspAspMetGluLysIleSerArgGlyProThrGlyArgLeuArgIleHisHisAlaLysLeuAlaGlnAlaGlyAlaTyrGlnCysIleValAspAsnGlyValAlaProProAlaArgArgLeuLeuArgLeuValValArgPheAlaProGlnValGluHisProThrProLeuThrLysValAlaAlaAlaGlyAspSerThrSerSerAlaThrLeuHisCysArgAlaArgGlyValProAsnIleValPheThrTrpThrLysAsnGlyValProLeuAspLeuGlnAspProArgTyrThrGluHisThrTyrHisGlnGlyGlyValHisSerSerLeuLeuThrIleAlaAsnValSerAlaAlaGlnAspTyrAlaLeuPheThrCysThrAlaThrAsnAlaLeuGlySerAspGlnThrAsnIleGlnLeuValSerIleSerArgProAspProProSerGlyLeuLysValValSerLeuThrProHisSerValGlyLeuGluTrpLysProGlyPheAspGlyGlyLeuProGlnArgPheCysIleArgTyrGluAlaLeuGlyThrProGlyPheHisTyrValAspValValProProGlnAlaThrThrPheThrLeuThrGlyLeuGlnProSerThrArgTyrArgValTrpLeuLeuAlaSerAsnAlaLeuGlyAspSerGlyLeuAlaAspLysGlyThrGlnLeuProIleThrThrProGlyLeuHisGlnProSerGlyGluProGluAspGlnLeuProThrGluProProSerGlyProSerGlyLeuProLeuLeuProValLeuPheAlaLeuGlyGlyLeuLeuLeuLeuSerAsnAlaSerCysValGlyGlyValLeuTrpGlnArgArgLeuArgArgLeuAlaGluGlyIleSerGluLysThrGluAlaGlySerGluGluAspArgValArgAsnGluTyrGluGluSerGlnTrpThrGlyGluArgAspThrGlnSerSerThrValSerThrThrGluAlaGluProTyrTyrArgSerLeuArgAspPheSerProGlnLeuProProThrGlnGluGluValSerTyrSerArgGlyPheThrGlyGluAspGluAspMetAlaPheProGlyHisLeuTyrAspGluValGluArgThrTyrProProSerGlyAlaTrpGlyProLeuTyrAspGluValGlnMetGlyProTrpAspLeuHisTrpProGluAspThrTyrGlnAspProArgGlyIleTyrAspGlnValAlaGlyAspLeuAspThrLeuGluProAspSerLeuProPheGluLeuArgGlyHisLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.1334G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.1334G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Trp445Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Trp445Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}