{
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  "@id": "http://reg.genome.network/allele/CA381694936",
  "communityStandardTitle": [
    "NM_001360.3(DHCR7):c.375C>G (p.Tyr125Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2980184[alleleid]",
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        "preferredName": "NM_001360.3(DHCR7):c.375C>G (p.Tyr125Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2829355",
        "RCV": [
          "RCV003618647"
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        "variationId": 2829355
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71153346G>C?assembly=hg19",
        "id": "chr11:g.71153346G>C"
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        "@id": "http://myvariant.info/v1/variant/chr11:g.71442300G>C?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/779401555",
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      "referenceGenome": "GRCh38",
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    }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825723"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827697"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827868"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828268"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS828685"
    },
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      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Tyr125Ter",
        "hgvsWellDefined": "ENSP00000347717.4:p.Tyr125_Phe475delinsValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.375C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.375C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Tyr125Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Tyr125Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.375C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Tyr125Ter",
        "hgvsWellDefined": "ENSP00000347717.3:p.Tyr125_Phe475delinsValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.375C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Tyr125Ter",
        "hgvsWellDefined": "ENSP00000384739.2:p.Tyr125_Phe475delinsValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.5:c.375C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.1:p.Tyr125Ter",
        "hgvsWellDefined": "ENSP00000435668.1:p.Tyr125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.5:c.279C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.1:p.Tyr93Ter",
        "hgvsWellDefined": "ENSP00000435047.1:p.Tyr93Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964243",
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "C",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.375C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Tyr125Ter",
        "hgvsWellDefined": "NP_001157289.1:p.Tyr125_Phe475delinsValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828109865",
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.375C>G",
        "LRG_340t1:c.375C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Tyr125Ter",
        "hgvsWellDefined": "NP_001351.2:p.Tyr125_Phe475delinsValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.375C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Tyr125Ter",
        "hgvsWellDefined": "XP_011543079.1:p.Tyr125_Thr456delinsValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.375C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Tyr125Ter",
        "hgvsWellDefined": "XP_011543079.1:p.Tyr125_Thr456delinsValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964243",
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.375C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Tyr125Ter",
        "hgvsWellDefined": "NP_001157289.1:p.Tyr125_Phe475delinsValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828109865",
      "coordinates": [
        {
          "allele": "G",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.375C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Tyr125Ter",
        "hgvsWellDefined": "NP_001351.2:p.Tyr125_Phe475delinsValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.375C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.375C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Tyr125Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Tyr125Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}