{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8917040",
  "communityStandardTitle": [
    "NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445947[alleleid]",
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        "preferredName": "NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449049",
        "RCV": [
          "RCV000520973",
          "RCV000984192",
          "RCV000763025",
          "RCV000984191",
          "RCV004537867"
        ],
        "variationId": 449049
      }
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      {
        "@id": "http://exac.broadinstitute.org/variant/18-21519265-C-T",
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      }
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        "@id": "http://myvariant.info/v1/variant/chr18:g.21519265C>T?assembly=hg19",
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        "variant": "18:21519265 C / T"
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    "gnomAD_3": [
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/18-23939301-C-T?dataset=gnomad_r4",
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      "referenceSequence": "http://reg.genome.network/refseq/RS770702"
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      "referenceSequence": "http://reg.genome.network/refseq/RS252151"
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      "referenceSequence": "http://reg.genome.network/refseq/RS256849"
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      "referenceSequence": "http://reg.genome.network/refseq/RS278706"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS389901"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS391016"
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    {
      "@id": "http://reg.genome.network/allele/PA2825094149",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659619",
      "coordinates": [
        {
          "allele": "T",
          "end": 9014,
          "referenceAllele": "C",
          "start": 9013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.2:c.8773C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121189.2:p.Gln2925_Gln3277delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825660452",
      "coordinates": [
        {
          "allele": "T",
          "end": 3971,
          "referenceAllele": "C",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121190.2:p.Gln1316_Gln1668delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678745",
      "coordinates": [
        {
          "allele": "T",
          "end": 9182,
          "referenceAllele": "C",
          "start": 9181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9209,
          "referenceAllele": "C",
          "start": 9208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9200,
          "referenceAllele": "C",
          "start": 9199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9191,
          "referenceAllele": "C",
          "start": 9190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011524282.1:p.Gln2984_Gln3336delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9077,
          "referenceAllele": "C",
          "start": 9076
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      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011524283.1:p.Gln2946_Gln3298delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8912,
          "referenceAllele": "C",
          "start": 8911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011524284.1:p.Gln2891_Gln3243delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9209,
          "referenceAllele": "C",
          "start": 9208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011524280.1:p.Gln2990_Gln3342delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9200,
          "referenceAllele": "C",
          "start": 9199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011524281.1:p.Gln2987_Gln3339delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9191,
          "referenceAllele": "C",
          "start": 9190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.2:c.8950C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:p.Gln2984Ter",
        "hgvsWellDefined": "XP_011524282.1:p.Gln2984_Gln3336delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9077,
          "referenceAllele": "C",
          "start": 9076
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      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.2:c.8836C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:p.Gln2946Ter",
        "hgvsWellDefined": "XP_011524283.1:p.Gln2946_Gln3298delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8912,
          "referenceAllele": "C",
          "start": 8911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.2:c.8671C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:p.Gln2891Ter",
        "hgvsWellDefined": "XP_011524284.1:p.Gln2891_Gln3243delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6893,
          "referenceAllele": "C",
          "start": 6892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025743.1:c.6820C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881232.1:p.Gln2274Ter",
        "hgvsWellDefined": "XP_016881232.1:p.Gln2274_Gln2626delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5574,
          "referenceAllele": "C",
          "start": 5573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025744.1:c.4510C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881233.1:p.Gln1504Ter",
        "hgvsWellDefined": "XP_016881233.1:p.Gln1504_Gln1856delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9209,
          "referenceAllele": "C",
          "start": 9208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XR_001753199.1:n.9209C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094149",
      "coordinates": [
        {
          "allele": "T",
          "end": 4139,
          "referenceAllele": "C",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.5:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Gln1372Ter",
        "hgvsWellDefined": "NP_000218.3:p.Gln1372_Gln1724delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659619",
      "coordinates": [
        {
          "allele": "T",
          "end": 9004,
          "referenceAllele": "C",
          "start": 9003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121189.2:p.Gln2925_Gln3277delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825660452",
      "coordinates": [
        {
          "allele": "T",
          "end": 3971,
          "referenceAllele": "C",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.3:c.3946C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121190.2:p.Gln1316_Gln1668delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676947"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678745",
      "coordinates": [
        {
          "allele": "T",
          "end": 9172,
          "referenceAllele": "C",
          "start": 9171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.3:c.8941C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Gln2981Ter",
        "hgvsWellDefined": "NP_937762.2:p.Gln2981_Gln3333delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094149",
      "coordinates": [
        {
          "allele": "T",
          "end": 4139,
          "referenceAllele": "C",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.6:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Gln1372Ter",
        "hgvsWellDefined": "NP_000218.3:p.Gln1372_Gln1724delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.4114C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.4114C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:p.Gln1372Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:p.Gln1372Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659619",
      "coordinates": [
        {
          "allele": "T",
          "end": 9004,
          "referenceAllele": "C",
          "start": 9003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.4:c.8773C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Gln2925Ter",
        "hgvsWellDefined": "NP_001121189.2:p.Gln2925_Gln3277delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712231"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825660452",
      "coordinates": [
        {
          "allele": "T",
          "end": 3971,
          "referenceAllele": "C",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.4:c.3946C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Gln1316Ter",
        "hgvsWellDefined": "NP_001121190.2:p.Gln1316_Gln1668delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678745",
      "coordinates": [
        {
          "allele": "T",
          "end": 9172,
          "referenceAllele": "C",
          "start": 9171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.4:c.8941C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Gln2981Ter",
        "hgvsWellDefined": "NP_937762.2:p.Gln2981_Gln3333delinsAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.8941C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.8941C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Gln2981Ter"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Gln2981Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}