{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621234",
  "communityStandardTitle": [
    "NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=162078",
        "active": true,
        "id": "COSM162078"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411165[alleleid]",
        "alleleId": 411165,
        "preferredName": "NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418278",
        "RCV": [
          "RCV000487331",
          "RCV001262258"
        ],
        "variationId": 418278
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153134154G>A?assembly=hg19",
        "id": "chrX:g.153134154G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153868699G>A?assembly=hg38",
        "id": "chrX:g.153868699G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793163",
        "rs": 1064793163
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153868699,
          "referenceAllele": "G",
          "start": 153868698
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153868699G>A",
        "CM000685.2:g.153868699G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153134154,
          "referenceAllele": "G",
          "start": 153134153
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153134154G>A",
        "CM000685.1:g.153134154G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152787348,
          "referenceAllele": "G",
          "start": 152787347
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152787348G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45525,
          "referenceAllele": "C",
          "start": 45524
        }
      ],
      "hgvs": [
        "NG_009645.3:g.45525C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22475,
          "referenceAllele": "C",
          "start": 22474
        }
      ],
      "hgvs": [
        "NG_009645.4:g.22475C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733323"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370060.7:c.1408C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.1408C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.1408C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:p.Gln470Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:p.Gln470Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000361699.8:c.1408C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355380.4:p.Gln470Ter",
        "hgvsWellDefined": "ENSP00000355380.4:p.Gln470_Glu1253delinsAspGluArgPhePheProTyrAlaAsnGlyThrLeuGlyIleArgAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000361981.7:c.1393C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354712.3:p.Gln465Ter",
        "hgvsWellDefined": "ENSP00000354712.3:p.Gln465_Glu1248delinsAspGluArgPhePheProTyrAlaAsnGlyThrLeuGlyIleArgAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "C",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370055.5:c.1393C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359072.1:p.Gln465Ter",
        "hgvsWellDefined": "ENSP00000359072.1:p.Gln465_Glu1248delinsAspGluArgPhePheProTyrAlaAsnGlyThrLeuGlyIleArgAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370060.5:c.1408C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359077.1:p.Gln470Ter",
        "hgvsWellDefined": "ENSP00000359077.1:p.Gln470_Glu1257delinsAspGluArgPhePheProTyrAlaAsnGlyThrLeuGlyIleArgAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "C",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000484652.1:n.361C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398224",
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.4:c.1408C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:p.Gln470Ter",
        "hgvsWellDefined": "NP_000416.1:p.Gln470_Glu1257delinsAspGluArgPhePheProTyrAlaAsnGlyThrLeuGlyIleArgAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825859876",
      "coordinates": [
        {
          "allele": "T",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001143963.2:c.1393C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137435.1:p.Gln465Ter",
        "hgvsWellDefined": "NP_001137435.1:p.Gln465_Glu1248delinsAspGluArgPhePheProTyrAlaAsnGlyThrLeuGlyIleArgAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826580628",
      "coordinates": [
        {
          "allele": "T",
          "end": 1626,
          "referenceAllele": "C",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.1:c.1408C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:p.Gln470Ter",
        "hgvsWellDefined": "NP_001265045.1:p.Gln470_Glu1257delinsAspGluArgPhePheProTyrAlaAsnGlyThrLeuGlyIleArgAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916072334",
      "coordinates": [
        {
          "allele": "T",
          "end": 1516,
          "referenceAllele": "C",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_024003.3:c.1408C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_076493.1:p.Gln470Ter",
        "hgvsWellDefined": "NP_076493.1:p.Gln470_Glu1253delinsAspGluArgPhePheProTyrAlaAsnGlyThrLeuGlyIleArgAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037600"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398224",
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.5:c.1408C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:p.Gln470Ter",
        "hgvsWellDefined": "NP_000416.1:p.Gln470_Glu1257delinsAspGluArgPhePheProTyrAlaAsnGlyThrLeuGlyIleArgAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826580628",
      "coordinates": [
        {
          "allele": "T",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.2:c.1408C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:p.Gln470Ter",
        "hgvsWellDefined": "NP_001265045.1:p.Gln470_Glu1257delinsAspGluArgPhePheProTyrAlaAsnGlyThrLeuGlyIleArgAspLeuGlnAlaAsnAspThrGlyArgTyrPheCysLeuAlaAlaAsnAspGlnAsnAsnValThrIleMetAlaAsnLeuLysValLysAspAlaThrGlnIleThrGlnGlyProArgSerThrIleGluLysLysGlySerArgValThrPheThrCysGlnAlaSerPheAspProSerLeuGlnProSerIleThrTrpArgGlyAspGlyArgAspLeuGlnGluLeuGlyAspSerAspLysTyrPheIleGluAspGlyArgLeuValIleHisSerLeuAspTyrSerAspGlnGlyAsnTyrSerCysValAlaSerThrGluLeuAspValValGluSerArgAlaGlnLeuLeuValValGlySerProGlyProValProArgLeuValLeuSerAspLeuHisLeuLeuThrGlnSerGlnValArgValSerTrpSerProAlaGluAspHisAsnAlaProIleGluLysTyrAspIleGluPheGluAspLysGluMetAlaProGluLysTrpTyrSerLeuGlyLysValProGlyAsnGlnThrSerThrThrLeuLysLeuSerProTyrValHisTyrThrPheArgValThrAlaIleAsnLysTyrGlyProGlyGluProSerProValSerGluThrValValThrProGluAlaAlaProGluLysAsnProValAspValLysGlyGluGlyAsnGluThrThrAsnMetValIleThrTrpLysProLeuArgTrpMetAspTrpAsnAlaProGlnValGlnTyrArgValGlnTrpArgProGlnGlyThrArgGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.1408C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.1408C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:p.Gln470Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:p.Gln470Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}