{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393517447",
  "communityStandardTitle": [
    "NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834348[alleleid]",
        "alleleId": 2834348,
        "preferredName": "NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675075",
        "RCV": [
          "RCV003475599"
        ],
        "variationId": 2675075
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.76585035G>A?assembly=hg19",
        "id": "chr15:g.76585035G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.76292694G>A?assembly=hg38",
        "id": "chr15:g.76292694G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1297718024",
        "rs": 1297718024
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-76292694-G-A?dataset=gnomad_r3",
        "id": "15-76292694-G-A",
        "variant": "15:76292694 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-76292694-G-A?dataset=gnomad_r4",
        "id": "15-76292694-G-A",
        "variant": "15:76292694 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 76292694,
          "referenceAllele": "G",
          "start": 76292693
        }
      ],
      "hgvs": [
        "NC_000015.10:g.76292694G>A",
        "CM000677.2:g.76292694G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 76585035,
          "referenceAllele": "G",
          "start": 76585034
        }
      ],
      "hgvs": [
        "NC_000015.9:g.76585035G>A",
        "CM000677.1:g.76585035G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 74372090,
          "referenceAllele": "G",
          "start": 74372089
        }
      ],
      "hgvs": [
        "NC_000015.8:g.74372090G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23776,
          "referenceAllele": "C",
          "start": 23775
        }
      ],
      "hgvs": [
        "NG_007077.2:g.23776C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000457"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000559386.2:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452777.2:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000452777.2:p.Gln65_Ser301delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProMetGluSerHisSerThrAlaGlnAlaGlyValGlnTrpCysHisLeuGlyPheLysGlnPheSerCysLeuSerLeuProSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560044.6:c.*188C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452942.1:n.*188C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560595.6:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453345.2:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000453345.2:p.Gln65_Lys406delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyAspGlyValSerLeuLeuLeuProArgLeuGluCysAsnGlyThrIleSerAlaHisArgHisLeuHisLeuProGlySerSerAspSerProAlaSerAlaSerArgValAlaGlyIleThrValGluThrGluValLeuHisValGlyGlnAlaGlyLeuGluIleLeuThrSerGlyAspProProThrSerAlaSerGlnSerValGlyIleThrGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826077"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000565910.6:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458001.2:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000458001.2:p.Gln65_Leu318delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysLeuProGlyLeuTyrHisValProIleLeuAspIleLeuAlaSerSerAlaHisLeuSerGluGluProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000685118.1:c.*188C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509473.1:n.*188C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000685548.1:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510343.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000510343.1:p.Gln65_Leu324delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysArgTrpGlyLeuProValLeuArgArgLeuValLeuAsnAlaTrpAlaGluValIleLeuProLeuProProProLysValLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000685863.1:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509361.1:p.Gln16Ter",
        "hgvsWellDefined": "ENSP00000509361.1:p.Gln16_Lys261delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000687293.1:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509928.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000509928.1:p.Gln65_Lys358delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyAspGlyValSerLeuLeuLeuProArgLeuGluCysAsnGlyThrIleSerAlaHisArgHisLeuHisLeuProGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000687975.1:c.*69C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508690.1:n.*69C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000688154.1:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510637.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000510637.1:p.Gln65_Leu324delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysArgTrpGlyLeuProValLeuArgArgLeuValLeuAsnAlaTrpAlaGluValIleLeuProLeuProProProLysValLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000688389.1:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510491.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000510491.1:p.Gln65_Lys310delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000688637.1:n.274C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 50,
          "referenceAllele": "C",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000688908.1:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510242.1:p.Gln16Ter",
        "hgvsWellDefined": "ENSP00000510242.1:p.Gln16_Lys278delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000689730.1:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510006.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000510006.1:p.Gln65_Lys327delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000689739.1:n.274C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "referenceAllele": "C",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000690610.1:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510473.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000510473.1:p.Gln65_Lys333delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000691021.1:c.*188C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510805.1:n.*188C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 180,
          "referenceAllele": "C",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000691071.1:n.48-181C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000691695.1:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509402.1:p.Gln16Ter",
        "hgvsWellDefined": "ENSP00000509402.1:p.Gln16_Ser252delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProMetGluSerHisSerThrAlaGlnAlaGlyValGlnTrpCysHisLeuGlyPheLysGlnPheSerCysLeuSerLeuProSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000692691.1:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508808.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000508808.1:p.Gln65_Lys374delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyAspGlyValSerLeuLeuLeuProArgLeuGluCysAsnGlyThrIleSerAlaHisArgHisLeuHisLeuProGlySerSerAspSerProAlaSerAlaSerArgValAlaGlyIleThrGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000693064.1:c.*168C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510720.1:n.*168C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000557943.6:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452762.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000452762.1:p.Gln65_Lys333delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760224",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000557943.6:c.193C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000126.4:c.193C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452762.1:p.Gln65Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000117.1:p.Gln65Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "endIntronDirection": "-",
          "endIntronOffset": 180,
          "referenceAllele": "C",
          "start": 246,
          "startIntronDirection": "-",
          "startIntronOffset": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000267950.12:c.187-181C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267950.8:n.187-181C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62,
          "referenceAllele": "C",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000433983.6:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399273.2:p.Gln16Ter",
        "hgvsWellDefined": "ENSP00000399273.2:p.Gln16_Lys284delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000557943.5:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452762.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000452762.1:p.Gln65_Lys333delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "C",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000559075.5:n.217C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "referenceAllele": "C",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000559386.1:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452777.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000452777.1:p.Gln65Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 4748,
          "referenceAllele": "C",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 4749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000559602.5:c.40-4749C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452659.1:n.40-4749C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560044.5:c.*188C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452942.1:n.*188C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "endIntronDirection": "-",
          "endIntronOffset": 180,
          "referenceAllele": "C",
          "start": 374,
          "startIntronDirection": "-",
          "startIntronOffset": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560309.5:c.*182-181C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453753.1:n.*182-181C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5,
          "referenceAllele": "C",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560345.5:c.5C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "referenceAllele": "C",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560595.5:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453345.1:p.Gln65Ter",
        "hgvsWellDefined": "ENSP00000453345.1:p.Gln65_Met303del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "endIntronDirection": "-",
          "endIntronOffset": 180,
          "referenceAllele": "C",
          "start": 117,
          "startIntronDirection": "-",
          "startIntronOffset": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560726.5:c.-512-181C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453098.1:n.-512-181C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 180,
          "referenceAllele": "C",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560899.5:c.-512-181C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453422.1:n.-512-181C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 180,
          "referenceAllele": "C",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000561092.1:n.201-181C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809780",
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_000126.3:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000117.1:p.Gln65Ter",
        "hgvsWellDefined": "NP_000117.1:p.Gln65_Lys333delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825658575",
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_001127716.1:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121188.1:p.Gln16Ter",
        "hgvsWellDefined": "NP_001121188.1:p.Gln16_Lys284delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "referenceAllele": "C",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "XR_931766.1:n.248C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "XR_931766.3:n.274C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809780",
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_000126.4:c.193C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000117.1:p.Gln65Ter",
        "hgvsWellDefined": "NP_000117.1:p.Gln65_Lys333delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000557943.6:c.193C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000126.4:c.193C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452762.1:p.Gln65Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000117.1:p.Gln65Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825658575",
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_001127716.2:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121188.1:p.Gln16Ter",
        "hgvsWellDefined": "NP_001121188.1:p.Gln16_Lys284delinsAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712230"
    }
  ],
  "type": "nucleotide"
}