{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10588749",
  "communityStandardTitle": [
    "NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260289[alleleid]",
        "alleleId": 260289,
        "preferredName": "NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265223",
        "RCV": [
          "RCV000255535",
          "RCV001855005",
          "RCV001391257"
        ],
        "variationId": 265223
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153134109G>A?assembly=hg19",
        "id": "chrX:g.153134109G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153868654G>A?assembly=hg38",
        "id": "chrX:g.153868654G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886039407",
        "rs": 886039407
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153868654,
          "referenceAllele": "G",
          "start": 153868653
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153868654G>A",
        "CM000685.2:g.153868654G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153134109,
          "referenceAllele": "G",
          "start": 153134108
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153134109G>A",
        "CM000685.1:g.153134109G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152787303,
          "referenceAllele": "G",
          "start": 152787302
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152787303G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45570,
          "referenceAllele": "C",
          "start": 45569
        }
      ],
      "hgvs": [
        "NG_009645.3:g.45570C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22520,
          "referenceAllele": "C",
          "start": 22519
        }
      ],
      "hgvs": [
        "NG_009645.4:g.22520C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733323"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1670,
          "referenceAllele": "C",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370060.7:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359077.1:p.Arg485Ter",
        "hgvsWellDefined": "ENSP00000359077.1:p.Arg485_Glu1257delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.1453C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.1453C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:p.Arg485Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:p.Arg485Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1464,
          "referenceAllele": "C",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000361699.8:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355380.4:p.Arg485Ter",
        "hgvsWellDefined": "ENSP00000355380.4:p.Arg485_Glu1253delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000361981.7:c.1438C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354712.3:p.Arg480Ter",
        "hgvsWellDefined": "ENSP00000354712.3:p.Arg480_Glu1248delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1636,
          "referenceAllele": "C",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370055.5:c.1438C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359072.1:p.Arg480Ter",
        "hgvsWellDefined": "ENSP00000359072.1:p.Arg480_Glu1248delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370060.5:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359077.1:p.Arg485Ter",
        "hgvsWellDefined": "ENSP00000359077.1:p.Arg485_Glu1257delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000484652.1:n.406C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398232",
      "coordinates": [
        {
          "allele": "T",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.4:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:p.Arg485Ter",
        "hgvsWellDefined": "NP_000416.1:p.Arg485_Glu1257delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825859889",
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001143963.2:c.1438C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137435.1:p.Arg480Ter",
        "hgvsWellDefined": "NP_001137435.1:p.Arg480_Glu1248delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826580641",
      "coordinates": [
        {
          "allele": "T",
          "end": 1671,
          "referenceAllele": "C",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.1:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:p.Arg485Ter",
        "hgvsWellDefined": "NP_001265045.1:p.Arg485_Glu1257delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916072343",
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_024003.3:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_076493.1:p.Arg485Ter",
        "hgvsWellDefined": "NP_076493.1:p.Arg485_Glu1253delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037600"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398232",
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.5:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:p.Arg485Ter",
        "hgvsWellDefined": "NP_000416.1:p.Arg485_Glu1257delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826580641",
      "coordinates": [
        {
          "allele": "T",
          "end": 1670,
          "referenceAllele": "C",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.2:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:p.Arg485Ter",
        "hgvsWellDefined": "NP_001265045.1:p.Arg485_Glu1257delinsAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.1453C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.1453C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:p.Arg485Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:p.Arg485Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}