{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA361888756",
  "communityStandardTitle": [
    "NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2855847[alleleid]",
        "alleleId": 2855847,
        "preferredName": "NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2702130",
        "RCV": [
          "RCV003596332"
        ],
        "variationId": 2702130
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.147451712G>T?assembly=hg19",
        "id": "chr5:g.147451712G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148072149G>T?assembly=hg38",
        "id": "chr5:g.148072149G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761010013",
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      }
    ]
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "5",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
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          "end": 147431905,
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
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      ],
      "hgvs": [
        "NG_009633.1:g.13178G>T",
        "LRG_110:g.13178G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001623"
    }
  ],
  "transcriptAlleles": [
    {
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      ],
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      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
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      "referenceSequence": "http://reg.genome.network/refseq/RS741747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_006846.4:c.211G>T"
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        "protein": {
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            "hgvs": "ENSP00000256084.7:p.Glu71Ter"
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          "RefSeq": {
            "hgvs": "NP_006837.2:p.Glu71Ter"
          }
        }
      }
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          "start": 252
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      "geneNCBI_id": 11005,
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      "referenceSequence": "http://reg.genome.network/refseq/RS250143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS264935"
    },
    {
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS278270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000427943.1:p.Glu71_Thr201delinsLysGluAlaLysSerGlnLysArgAlaArgHisLeuAlaArgAlaProLysAlaThrAlaProThrGluLeuAsnCysAspAspPheLysLysGlyGluArgAspGlyAspPheIleCysProAspTyrTyrGluAlaValCysGlyThrAspGlyLysThrTyrAspAsnArgCysAlaLeuCysAlaGluAsnAlaLysThrGlySerGlnIleGlyValLysSerGluGlyGluCysLysSerSerAsnProGluGlnPheCysGluProValMetValGlyGluGlyGluGlyArgLysAspLeuIleHisValThrLeuValPhePheGlnGluIleGlySerLysLeuMetAlaArgThrValLeuCysLeuSerSerGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317685"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS339126"
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    {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS339685"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS348077"
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      "referenceSequence": "http://reg.genome.network/refseq/RS011680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655071",
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      "proteinEffect": {
        "hgvs": "NP_001121171.1:p.Glu71Ter",
        "hgvsWellDefined": "NP_001121171.1:p.Glu71_Tyr916delinsLysGluAlaLysSerGlnLysArgAlaArgHisLeuAlaArgAlaProLysAlaThrAlaProThrGluLeuAsnCysAspAspPheLysLysGlyGluArgAspGlyAspPheIleCysProAspTyrTyrGluAlaValCysGlyThrAspGlyLysThrTyrAspAsnArgCysAlaLeuCysAlaGluAsnAlaLysThrGlySerGlnIleGlyValLysSerGluGlyGluCysLysSerSerAsnProGluGlnAspValCysSerAlaPheArgProPheValArgAspGlyArgLeuGlyCysThrArgGluAsnAspProValLeuGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysAlaGluLeuPheLeuLysGluAlaGluAsnAlaLysArgGluGlyGluThrArgIleArgArgAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741926697",
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_006846.3:c.211G>T",
        "LRG_110t1:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006837.2:p.Glu71Ter",
        "hgvsWellDefined": "NP_006837.2:p.Glu71_Glu1064delinsLysGluAlaLysSerGlnLysArgAlaArgHisLeuAlaArgAlaProLysAlaThrAlaProThrGluLeuAsnCysAspAspPheLysLysGlyGluArgAspGlyAspPheIleCysProAspTyrTyrGluAlaValCysGlyThrAspGlyLysThrTyrAspAsnArgCysAlaLeuCysAlaGluAsnAlaLysThrGlySerGlnIleGlyValLysSerGluGlyGluCysLysSerSerAsnProGluGlnAspValCysSerAlaPheArgProPheValArgAspGlyArgLeuGlyCysThrArgGluAsnAspProValLeuGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysAlaGluLeuPheLeuLysGluAlaGluAsnAlaLysArgGluGlyGluThrArgIleArgArgAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537550.1:c.154G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535852.1:p.Glu52Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "G",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537551.1:c.127G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535853.1:p.Glu43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537551.2:c.127G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535853.1:p.Glu43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127698.2:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121170.1:p.Glu71Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655071",
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127699.2:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121171.1:p.Glu71Ter",
        "hgvsWellDefined": "NP_001121171.1:p.Glu71_Tyr916delinsLysGluAlaLysSerGlnLysArgAlaArgHisLeuAlaArgAlaProLysAlaThrAlaProThrGluLeuAsnCysAspAspPheLysLysGlyGluArgAspGlyAspPheIleCysProAspTyrTyrGluAlaValCysGlyThrAspGlyLysThrTyrAspAsnArgCysAlaLeuCysAlaGluAsnAlaLysThrGlySerGlnIleGlyValLysSerGluGlyGluCysLysSerSerAsnProGluGlnAspValCysSerAlaPheArgProPheValArgAspGlyArgLeuGlyCysThrArgGluAsnAspProValLeuGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysAlaGluLeuPheLeuLysGluAlaGluAsnAlaLysArgGluGlyGluThrArgIleArgArgAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741926697",
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_006846.4:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006837.2:p.Glu71Ter",
        "hgvsWellDefined": "NP_006837.2:p.Glu71_Glu1064delinsLysGluAlaLysSerGlnLysArgAlaArgHisLeuAlaArgAlaProLysAlaThrAlaProThrGluLeuAsnCysAspAspPheLysLysGlyGluArgAspGlyAspPheIleCysProAspTyrTyrGluAlaValCysGlyThrAspGlyLysThrTyrAspAsnArgCysAlaLeuCysAlaGluAsnAlaLysThrGlySerGlnIleGlyValLysSerGluGlyGluCysLysSerSerAsnProGluGlnAspValCysSerAlaPheArgProPheValArgAspGlyArgLeuGlyCysThrArgGluAsnAspProValLeuGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysAlaGluLeuPheLeuLysGluAlaGluAsnAlaLysArgGluGlyGluThrArgIleArgArgAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256084.8:c.211G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006846.4:c.211G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256084.7:p.Glu71Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006837.2:p.Glu71Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}