{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374389375",
  "communityStandardTitle": [
    "NM_003640.5(ELP1):c.505C>T (p.Gln169Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3174676[alleleid]",
        "alleleId": 3174676,
        "preferredName": "NM_003640.5(ELP1):c.505C>T (p.Gln169Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3015699",
        "RCV": [
          "RCV003873786"
        ],
        "variationId": 3015699
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.111685169G>A?assembly=hg19",
        "id": "chr9:g.111685169G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.108922889G>A?assembly=hg38",
        "id": "chr9:g.108922889G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755319650",
        "rs": 755319650
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 108922889,
          "referenceAllele": "G",
          "start": 108922888
        }
      ],
      "hgvs": [
        "NC_000009.12:g.108922889G>A",
        "CM000671.2:g.108922889G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 111685169,
          "referenceAllele": "G",
          "start": 111685168
        }
      ],
      "hgvs": [
        "NC_000009.11:g.111685169G>A",
        "CM000671.1:g.111685169G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 110724990,
          "referenceAllele": "G",
          "start": 110724989
        }
      ],
      "hgvs": [
        "NC_000009.10:g.110724990G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16440,
          "referenceAllele": "C",
          "start": 16439
        }
      ],
      "hgvs": [
        "NG_008788.1:g.16440C>T",
        "LRG_251:g.16440C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.10:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.505C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.505C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Gln169Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Gln169Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000495759.6:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433514.2:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000433514.2:p.Gln169_Gln193delinsPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetValIleValGlnValLeuThrLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674535.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502142.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674704.1:n.821C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674836.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674890.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501870.1:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000501870.1:p.Gln169_Ser928delinsPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysPheSerLeuIleIlePheLeuGlySerGlnArgIleSerSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674938.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502427.1:p.Gln55Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674948.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501602.1:p.Gln55Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675052.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502664.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675078.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501549.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675215.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502558.1:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000502558.1:p.Gln169_Arg195delinsPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetThrLeuArgGlnPheAspCysIleTyrThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675233.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675321.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502751.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675325.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675335.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502182.1:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000502182.1:p.Gln169_Glu446delinsPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlySerLeuIleLeuPhePheLeuPheHisCysArgGlnGlyValGlyAspSerLeuProAlaAspCysGlySerAlaSerHisValHisLeuProThrAlaValProThrProCysGluSerSerHisIleLeuSerThrProSerLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "C",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675400.1:n.687C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675406.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501893.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675458.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501754.1:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000501754.1:p.Gln169_Phe186delinsPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675507.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675535.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501667.1:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000501667.1:p.Gln169_Ser810delinsPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgArgCysHisGluAspHisValProCysThrSerTyrGlnGlnCysLeuProValGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675566.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675602.1:n.813C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675647.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675711.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502485.1:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000502485.1:p.Gln169_Lys1091delinsPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnArgTrpGlyValThrSerCysProArgTrpSerGluThrProGlyLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675727.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501722.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675748.1:n.648C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675765.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502640.1:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000502640.1:p.Gln169_Leu892delinsPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyArgAspProLeuThrGluLysValLeuLysValAlaValThrAlaThrSerLeuLeuGlnGluMetLeuProLeuIleLeuMetLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675825.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502632.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675877.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675893.1:c.*83C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502001.1:n.*83C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675938.1:n.841C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675943.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675979.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502208.1:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000502208.1:p.Gln169_Val221delinsPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrAspProGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676044.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502378.1:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000502378.1:p.Gln169_Lys812delinsPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgLeuLysSerAsnGlyIlePheLeuSerAspAspLeuSerProGlnLeuPheAsnGluThrLeuSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676086.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 842,
          "referenceAllele": "C",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676121.1:n.842C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676237.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501828.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676416.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501660.1:p.Gln55Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676424.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3483,
          "referenceAllele": "C",
          "start": 3482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676429.1:n.3483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.9:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 90,
          "endIntronDirection": "-",
          "endIntronOffset": 5218,
          "referenceAllele": "C",
          "start": 90,
          "startIntronDirection": "-",
          "startIntronOffset": 5219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000537196.1:c.-307-5219C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439367.1:n.-307-5219C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.3:c.505C>T",
        "LRG_251t1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_005252285.2:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252342.1:p.Gln55Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519137.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517439.1:p.Gln55Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.1:n.821C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Gln55Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.1:c.-355C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:n.-355C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.4:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.2:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.3:n.832C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.5:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.505C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.505C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Gln169Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Gln169Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.2:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Gln55Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.2:c.-355C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:n.-355C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687100"
    }
  ],
  "type": "nucleotide"
}