{
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  "@id": "http://reg.genome.network/allele/CA207441",
  "communityStandardTitle": [
    "NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=208929[alleleid]",
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        "preferredName": "NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/211339",
        "RCV": [
          "RCV000193744",
          "RCV000494147",
          "RCV000714717",
          "RCV000714718",
          "RCV002509289"
        ],
        "variationId": 211339
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153132257G>A?assembly=hg19",
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153866802G>A?assembly=hg38",
        "id": "chrX:g.153866802G>A"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045673",
        "rs": 797045673
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      "referenceGenome": "GRCh38",
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    {
      "chromosome": "X",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS265607"
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      "referenceSequence": "http://reg.genome.network/refseq/RS265738"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS267844"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS267847"
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      "@id": "http://reg.genome.network/allele/PA207442",
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      "proteinEffect": {
        "hgvs": "NP_001137435.1:p.Arg755Ter",
        "hgvsWellDefined": "NP_001137435.1:p.Arg755_Glu1248delinsGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891861710",
      "coordinates": [
        {
          "allele": "T",
          "end": 2496,
          "referenceAllele": "C",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.1:c.2278C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:p.Arg760Ter",
        "hgvsWellDefined": "NP_001265045.1:p.Arg760_Glu1257delinsGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916072416",
      "coordinates": [
        {
          "allele": "T",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_024003.3:c.2278C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_076493.1:p.Arg760Ter",
        "hgvsWellDefined": "NP_076493.1:p.Arg760_Glu1253delinsGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037600"
    },
    {
      "@id": "http://reg.genome.network/allele/PA207442",
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "referenceAllele": "C",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.5:c.2278C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:p.Arg760Ter",
        "hgvsWellDefined": "NP_000416.1:p.Arg760_Glu1257delinsGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891861710",
      "coordinates": [
        {
          "allele": "T",
          "end": 2495,
          "referenceAllele": "C",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.2:c.2278C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:p.Arg760Ter",
        "hgvsWellDefined": "NP_001265045.1:p.Arg760_Glu1257delinsGlyProTrpGlnGluGlnIleValSerAspProPheLeuValValSerAsnThrSerThrPheValProTyrGluIleLysValGlnAlaValAsnSerGlnGlyLysGlyProGluProGlnValThrIleGlyTyrSerGlyGluAspTyrProGlnAlaIleProGluLeuGluGlyIleGluIleLeuAsnSerSerAlaValLeuValLysTrpArgProValAspLeuAlaGlnValLysGlyHisLeuArgGlyTyrAsnValThrTyrTrpArgGluGlySerGlnArgLysHisSerLysArgHisIleHisLysAspHisValValValProAlaAsnThrThrSerValIleLeuSerGlyLeuArgProTyrSerSerTyrHisLeuGluValGlnAlaPheAsnGlyArgGlySerGlyProAlaSerGluPheThrPheSerThrProGluGlyValProGlyHisProGluAlaLeuHisLeuGluCysGlnSerAsnThrSerLeuLeuLeuArgTrpGlnProProLeuSerHisAsnGlyValLeuThrGlyTyrValLeuSerTyrHisProLeuAspGluGlyGlyLysGlyGlnLeuSerPheAsnLeuArgAspProGluLeuArgThrHisAsnLeuThrAspLeuSerProHisLeuArgTyrArgPheGlnLeuGlnAlaThrThrLysGluGlyProGlyGluAlaIleValArgGluGlyGlyThrMetAlaLeuSerGlyIleSerAspPheGlyAsnIleSerAlaThrAlaGlyGluAsnTyrSerValValSerTrpValProLysGluGlyGlnCysAsnPheArgPheHisIleLeuPheLysAlaLeuGlyGluGluLysGlyGlyAlaSerLeuSerProGlnTyrValSerTyrAsnGlnSerSerTyrThrGlnTrpAspLeuGlnProAspThrAspTyrGluIleHisLeuPheLysGluArgMetPheArgHisGlnMetAlaValLysThrAsnGlyThrGlyArgValArgLeuProProAlaGlyPheAlaThrGluGlyTrpPheIleGlyPheValSerAlaIleIleLeuLeuLeuLeuValLeuLeuIleLeuCysPheIleLysArgSerLysGlyGlyLysTyrSerValLysAspLysGluAspThrGlnValAspSerGluAlaArgProMetLysAspGluThrPheGlyGluTyrArgSerLeuGluSerAspAsnGluGluLysAlaPheGlySerSerGlnProSerLeuAsnGlyAspIleLysProLeuGlySerAspAspSerLeuAlaAspTyrGlyGlySerValAspValGlnPheAsnGluAspGlySerPheIleGlyGlnTyrSerGlyLysLysGluLysGluAlaAlaGlyGlyAsnAspSerSerGlyAlaThrSerProIleAsnProAlaValAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.2278C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.2278C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:p.Arg760Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:p.Arg760Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}