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  "communityStandardTitle": [
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        "RCV": [
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      }
    ],
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        "@id": "http://myvariant.info/v1/variant/chr11:g.71152470A>C?assembly=hg19",
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      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Tyr143Ter",
        "hgvsWellDefined": "ENSP00000347717.4:p.Tyr143_Phe475delinsGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.429T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.429T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Tyr143Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Tyr143Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 706,
          "referenceAllele": "T",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.429T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Tyr143Ter",
        "hgvsWellDefined": "ENSP00000347717.3:p.Tyr143_Phe475delinsGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.429T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Tyr143Ter",
        "hgvsWellDefined": "ENSP00000384739.2:p.Tyr143_Phe475delinsGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "T",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.5:c.429T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.1:p.Tyr143Ter",
        "hgvsWellDefined": "ENSP00000435668.1:p.Tyr143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "T",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.5:c.333T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.1:p.Tyr111Ter",
        "hgvsWellDefined": "ENSP00000435047.1:p.Tyr111Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964260",
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "referenceAllele": "T",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.429T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Tyr143Ter",
        "hgvsWellDefined": "NP_001157289.1:p.Tyr143_Phe475delinsGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913194877",
      "coordinates": [
        {
          "allele": "G",
          "end": 702,
          "referenceAllele": "T",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.429T>G",
        "LRG_340t1:c.429T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Tyr143Ter",
        "hgvsWellDefined": "NP_001351.2:p.Tyr143_Phe475delinsGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "T",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.429T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Tyr143Ter",
        "hgvsWellDefined": "XP_011543079.1:p.Tyr143_Thr456delinsGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 658,
          "referenceAllele": "T",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.429T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Tyr143Ter",
        "hgvsWellDefined": "XP_011543079.1:p.Tyr143_Thr456delinsGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964260",
      "coordinates": [
        {
          "allele": "G",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.429T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Tyr143Ter",
        "hgvsWellDefined": "NP_001157289.1:p.Tyr143_Phe475delinsGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913194877",
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "T",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.429T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Tyr143Ter",
        "hgvsWellDefined": "NP_001351.2:p.Tyr143_Phe475delinsGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.429T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.429T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Tyr143Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Tyr143Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}