{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384422988",
  "communityStandardTitle": [
    "NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3156068[alleleid]",
        "alleleId": 3156068,
        "preferredName": "NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2997007",
        "RCV": [
          "RCV003859142"
        ],
        "variationId": 2997007
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.41327298C>T?assembly=hg19",
        "id": "chr12:g.41327298C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.40933496C>T?assembly=hg38",
        "id": "chr12:g.40933496C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2499432719",
        "rs": 2499432719
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 40933496,
          "referenceAllele": "C",
          "start": 40933495
        }
      ],
      "hgvs": [
        "NC_000012.12:g.40933496C>T",
        "CM000674.2:g.40933496C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 41327298,
          "referenceAllele": "C",
          "start": 41327297
        }
      ],
      "hgvs": [
        "NC_000012.11:g.41327298C>T",
        "CM000674.1:g.41327298C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 39613565,
          "referenceAllele": "C",
          "start": 39613564
        }
      ],
      "hgvs": [
        "NC_000012.10:g.39613565C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245941,
          "referenceAllele": "C",
          "start": 245940
        }
      ],
      "hgvs": [
        "NG_012058.2:g.245941C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002143"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "C",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "ENST00000547849.6:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448653.1:p.Gln247Ter",
        "hgvsWellDefined": "ENSP00000448653.1:p.Gln247_Trp627delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyLysAsnArgLysGlyGlyGluLysAsnMetValAspSerPheLeuProValCysAlaSerLeuProProThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "ENST00000551295.7:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447006.1:p.Gln247Ter",
        "hgvsWellDefined": "ENSP00000447006.1:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759998",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000551295.7:c.739C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001843.4:c.739C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000447006.1:p.Gln247Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001834.2:p.Gln247Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "ENST00000347616.5:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325660.3:p.Gln247Ter",
        "hgvsWellDefined": "ENSP00000325660.3:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "C",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "ENST00000348761.2:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261160.3:p.Gln236Ter",
        "hgvsWellDefined": "ENSP00000261160.3:p.Gln236_Phe1007delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "ENST00000547702.5:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448004.1:p.Gln247Ter",
        "hgvsWellDefined": "ENSP00000448004.1:p.Gln247_Trp627delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyLysAsnArgLysGlyGlyGluLysAsnMetValAspSerPheLeuProValCysAlaSerLeuProProThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "ENST00000547849.5:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448653.1:p.Gln247Ter",
        "hgvsWellDefined": "ENSP00000448653.1:p.Gln247_Trp627delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyLysAsnArgLysGlyGlyGluLysAsnMetValAspSerPheLeuProValCysAlaSerLeuProProThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "ENST00000551295.6:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447006.1:p.Gln247Ter",
        "hgvsWellDefined": "ENSP00000447006.1:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826370590",
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "NM_001256063.1:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001242992.1:p.Gln247Ter",
        "hgvsWellDefined": "NP_001242992.1:p.Gln247_Trp627delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyLysAsnArgLysGlyGlyGluLysAsnMetValAspSerPheLeuProValCysAlaSerLeuProProThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826370817",
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "NM_001256064.1:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001242993.1:p.Gln247Ter",
        "hgvsWellDefined": "NP_001242993.1:p.Gln247_Trp627delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyLysAsnArgLysGlyGlyGluLysAsnMetValAspSerPheLeuProValCysAlaSerLeuProProThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019077"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741887766",
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "NM_001843.3:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001834.2:p.Gln247Ter",
        "hgvsWellDefined": "NP_001834.2:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830378740",
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "NM_175038.2:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_778203.1:p.Gln236Ter",
        "hgvsWellDefined": "NP_778203.1:p.Gln236_Phe1007delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "XM_005268651.1:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268708.1:p.Gln247Ter",
        "hgvsWellDefined": "XP_005268708.1:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "XM_006719241.1:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719304.1:p.Gln247Ter",
        "hgvsWellDefined": "XP_006719304.1:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "XM_011537926.1:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536228.1:p.Gln247Ter",
        "hgvsWellDefined": "XP_011536228.1:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "XM_011537927.1:c.739C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011536229.1:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "XM_005268651.2:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268708.1:p.Gln247Ter",
        "hgvsWellDefined": "XP_005268708.1:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "XM_006719241.2:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719304.1:p.Gln247Ter",
        "hgvsWellDefined": "XP_006719304.1:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "XM_011537926.3:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536228.1:p.Gln247Ter",
        "hgvsWellDefined": "XP_011536228.1:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "XM_011537927.2:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536229.1:p.Gln247Ter",
        "hgvsWellDefined": "XP_011536229.1:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS553084"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
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      "geneNCBI_id": 1272,
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        "XM_017018826.2:c.739C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016874315.1:p.Gln247_Trp627delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyLysAsnArgLysGlyGlyGluLysAsnMetValAspSerPheLeuProValCysAlaSerLeuProProThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024304611.1:p.Gln247_Trp627delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyLysAsnArgLysGlyGlyGluLysAsnMetValAspSerPheLeuProValCysAlaSerLeuProProThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "XR_002957288.1:n.961C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
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      "geneSymbol": "CNTN1",
      "hgvs": [
        "XR_002957289.1:n.1082C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
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      "geneSymbol": "CNTN1",
      "hgvs": [
        "XR_002957290.1:n.1329C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "XR_002957291.1:n.953C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741887766",
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "NM_001843.4:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001834.2:p.Gln247Ter",
        "hgvsWellDefined": "NP_001834.2:p.Gln247_Phe1018delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyProProGlyProProGlyGlyLeuArgIleGluAspIleArgAlaThrSerValAlaLeuThrTrpSerArgGlySerAspAsnHisSerProIleSerLysTyrThrIleGlnThrLysThrIleLeuSerAspAspTrpLysAspAlaLysThrAspProProIleIleGluGlyAsnMetGluAlaAlaArgAlaValAspLeuIleProTrpMetGluTyrGluPheArgValValAlaThrAsnThrLeuGlyArgGlyGluProSerIleProSerAsnArgIleLysThrAspGlyAlaAlaProAsnValAlaProSerAspValGlyGlyGlyGlyGlyArgAsnArgGluLeuThrIleThrTrpAlaProLeuSerArgGluTyrHisTyrGlyAsnAsnPheGlyTyrIleValAlaPheLysProPheAspGlyGluGluTrpLysLysValThrValThrAsnProAspThrGlyArgTyrValHisLysAspGluThrMetSerProSerThrAlaPheGlnValLysValLysAlaPheAsnAsnLysGlyAspGlyProTyrSerLeuValAlaValIleAsnSerAlaGlnAspAlaProSerGluAlaProThrGluValGlyValLysValLeuSerSerSerGluIleSerValHisTrpGluHisValLeuGluLysIleValGluSerTyrGlnIleArgTyrTrpAlaAlaHisAspLysGluGluAlaAlaAsnArgValGlnValThrSerGlnGluTyrSerAlaArgLeuGluAsnLeuLeuProAspThrGlnTyrPheIleGluValGlyAlaCysAsnSerAlaGlyCysGlyProProSerAspMetIleGluAlaPheThrLysLysAlaProProSerGlnProProArgIleIleSerSerValArgSerGlySerArgTyrIleIleThrTrpAspHisValValAlaLeuSerAsnGluSerThrValThrGlyTyrLysValLeuTyrArgProAspGlyGlnHisAspGlyLysLeuTyrSerThrHisLysHisSerIleGluValProIleProArgAspGlyGluTyrValValGluValArgAlaHisSerAspGlyGlyAspGlyValValSerGlnValLysIleSerGlyAlaProThrLeuSerProSerLeuLeuGlyLeuLeuLeuProAlaPheGlyIleLeuValTyrLeuGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000551295.7:c.739C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001843.4:c.739C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000447006.1:p.Gln247Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001834.2:p.Gln247Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826370590",
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "NM_001256063.2:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001242992.1:p.Gln247Ter",
        "hgvsWellDefined": "NP_001242992.1:p.Gln247_Trp627delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyLysAsnArgLysGlyGlyGluLysAsnMetValAspSerPheLeuProValCysAlaSerLeuProProThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826370817",
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "C",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "NM_001256064.2:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001242993.1:p.Gln247Ter",
        "hgvsWellDefined": "NP_001242993.1:p.Gln247_Trp627delinsPheLysAspValTyrAlaLeuMetGlyGlnAsnValThrLeuGluCysPheAlaLeuGlyAsnProValProAspIleArgTrpArgLysValLeuGluProMetProSerThrAlaGluIleSerThrSerGlyAlaValLeuLysIlePheAsnIleGlnLeuGluAspGluGlyIleTyrGluCysGluAlaGluAsnIleArgGlyLysAspLysHisGlnAlaArgIleTyrValGlnAlaPheProGluTrpValGluHisIleAsnAspThrGluValAspIleGlySerAspLeuTyrTrpProCysValAlaThrGlyLysProIleProThrIleArgTrpLeuLysAsnGlyTyrAlaTyrHisLysGlyGluLeuArgLeuTyrAspValThrPheGluAsnAlaGlyMetTyrGlnCysIleAlaGluAsnThrTyrGlyAlaIleTyrAlaAsnAlaGluLeuLysIleLeuAlaLeuAlaProThrPheGluMetAsnProMetLysLysLysIleLeuAlaAlaLysGlyGlyArgValIleIleGluCysLysProLysAlaAlaProLysProLysPheSerTrpSerLysGlyThrGluTrpLeuValAsnSerSerArgIleLeuIleTrpGluAspGlySerLeuGluIleAsnAsnIleThrArgAsnAspGlyGlyIleTyrThrCysPheAlaGluAsnAsnArgGlyLysAlaAsnSerThrGlyThrLeuValIleThrAspProThrArgIleIleLeuAlaProIleAsnAlaAspIleThrValGlyGluAsnAlaThrMetGlnCysAlaAlaSerPheAspProAlaLeuAspLeuThrPheValTrpSerPheAsnGlyTyrValIleAspPheAsnLysGluAsnIleHisTyrGlnArgAsnPheMetLeuAspSerAsnGlyGluLeuLeuIleArgAsnAlaGlnLeuLysHisAlaGlyArgTyrThrCysThrAlaGlnThrIleValAspAsnSerSerAlaSerAlaAspLeuValValArgGlyLysAsnArgLysGlyGlyGluLysAsnMetValAspSerPheLeuProValCysAlaSerLeuProProThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714699"
    }
  ],
  "type": "nucleotide"
}