{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402065961",
  "communityStandardTitle": [
    "NM_198129.4(LAMA3):c.8599C>T (p.Gln2867Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=928664[alleleid]",
        "alleleId": 928664,
        "preferredName": "NM_198129.4(LAMA3):c.8599C>T (p.Gln2867Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/952726",
        "RCV": [
          "RCV001224889",
          "RCV004546620"
        ],
        "variationId": 952726
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21512146C>T?assembly=hg19",
        "id": "chr18:g.21512146C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23932182C>T?assembly=hg38",
        "id": "chr18:g.23932182C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2082180462",
        "rs": 2082180462
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23932182-C-T?dataset=gnomad_r4",
        "id": "18-23932182-C-T",
        "variant": "18:23932182 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 23932182,
          "referenceAllele": "C",
          "start": 23932181
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      ],
      "hgvs": [
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        "CM000680.2:g.23932182C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 21512146,
          "referenceAllele": "C",
          "start": 21512145
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      ],
      "hgvs": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
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          "end": 19766144,
          "referenceAllele": "C",
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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          "end": 247585,
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          "start": 247584
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      "hgvs": [
        "NG_007853.2:g.247585C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000677"
    }
  ],
  "transcriptAlleles": [
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        {
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          "start": 3796
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      ],
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      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
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        "maneStatus": "MANE Plus Clinical",
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          "RefSeq": {
            "hgvs": "NM_000227.6:c.3772C>T"
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          "RefSeq": {
            "hgvs": "NP_000218.3:p.Gln1258Ter"
          }
        }
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        {
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          "start": 8829
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      "geneSymbol": "LAMA3",
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      "referenceSequence": "http://reg.genome.network/refseq/RS745873",
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000313654.14:c.8599C>T"
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            "hgvs": "NM_198129.4:c.8599C>T"
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          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Gln2867Ter"
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          "RefSeq": {
            "hgvs": "NP_937762.2:p.Gln2867Ter"
          }
        }
      }
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    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5194,
          "referenceAllele": "C",
          "start": 5193
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      ],
      "gene": "http://reg.genome.network/gene/GN006483",
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      "geneSymbol": "LAMA3",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3977,
          "referenceAllele": "C",
          "start": 3976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000269217.5:p.Gln1258_Gln1724delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8840,
          "referenceAllele": "C",
          "start": 8839
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      ],
      "gene": "http://reg.genome.network/gene/GN006483",
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      "hgvs": [
        "ENST00000313654.13:c.8599C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000324532.8:p.Gln2867_Gln3333delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8431,
          "referenceAllele": "C",
          "start": 8430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000399516.7:c.8431C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000382432.2:p.Gln2811Ter",
        "hgvsWellDefined": "ENSP00000382432.2:p.Gln2811_Gln3277delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3604,
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      "gene": "http://reg.genome.network/gene/GN006483",
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      "proteinEffect": {
        "hgvs": "ENSP00000466557.1:p.Gln1202Ter",
        "hgvsWellDefined": "ENSP00000466557.1:p.Gln1202_Gln1668delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3177,
          "referenceAllele": "C",
          "start": 3176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000588770.5:n.3177C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70,
          "referenceAllele": "C",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000592442.1:n.70C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094079",
      "coordinates": [
        {
          "allele": "T",
          "end": 3797,
          "referenceAllele": "C",
          "start": 3796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.4:c.3772C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Gln1258Ter",
        "hgvsWellDefined": "NP_000218.3:p.Gln1258_Gln1724delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659560",
      "coordinates": [
        {
          "allele": "T",
          "end": 8672,
          "referenceAllele": "C",
          "start": 8671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.2:c.8431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Gln2811Ter",
        "hgvsWellDefined": "NP_001121189.2:p.Gln2811_Gln3277delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825660393",
      "coordinates": [
        {
          "allele": "T",
          "end": 3629,
          "referenceAllele": "C",
          "start": 3628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.2:c.3604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Gln1202Ter",
        "hgvsWellDefined": "NP_001121190.2:p.Gln1202_Gln1668delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139763991",
      "coordinates": [
        {
          "allele": "T",
          "end": 8840,
          "referenceAllele": "C",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.2:c.8599C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Gln2867Ter",
        "hgvsWellDefined": "NP_937762.2:p.Gln2867_Gln3333delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8867,
          "referenceAllele": "C",
          "start": 8866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.1:c.8626C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:p.Gln2876Ter",
        "hgvsWellDefined": "XP_011524280.1:p.Gln2876_Gln3342delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8858,
          "referenceAllele": "C",
          "start": 8857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.1:c.8617C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:p.Gln2873Ter",
        "hgvsWellDefined": "XP_011524281.1:p.Gln2873_Gln3339delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8849,
          "referenceAllele": "C",
          "start": 8848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.1:c.8608C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:p.Gln2870Ter",
        "hgvsWellDefined": "XP_011524282.1:p.Gln2870_Gln3336delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8735,
          "referenceAllele": "C",
          "start": 8734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.1:c.8494C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:p.Gln2832Ter",
        "hgvsWellDefined": "XP_011524283.1:p.Gln2832_Gln3298delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8570,
          "referenceAllele": "C",
          "start": 8569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.1:c.8329C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:p.Gln2777Ter",
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    },
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 8866
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548087"
    },
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        {
          "allele": "T",
          "end": 8858,
          "referenceAllele": "C",
          "start": 8857
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548088"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 8849,
          "referenceAllele": "C",
          "start": 8848
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      "geneNCBI_id": 3909,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8735,
          "referenceAllele": "C",
          "start": 8734
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      "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/RS548090"
    },
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        {
          "allele": "T",
          "end": 8570,
          "referenceAllele": "C",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6551,
          "referenceAllele": "C",
          "start": 6550
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5232,
          "referenceAllele": "C",
          "start": 5231
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      "gene": "http://reg.genome.network/gene/GN006483",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8867,
          "referenceAllele": "C",
          "start": 8866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094079",
      "coordinates": [
        {
          "allele": "T",
          "end": 3797,
          "referenceAllele": "C",
          "start": 3796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.5:c.3772C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Gln1258Ter",
        "hgvsWellDefined": "NP_000218.3:p.Gln1258_Gln1724delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659560",
      "coordinates": [
        {
          "allele": "T",
          "end": 8662,
          "referenceAllele": "C",
          "start": 8661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.3:c.8431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Gln2811Ter",
        "hgvsWellDefined": "NP_001121189.2:p.Gln2811_Gln3277delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825660393",
      "coordinates": [
        {
          "allele": "T",
          "end": 3629,
          "referenceAllele": "C",
          "start": 3628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.3:c.3604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Gln1202Ter",
        "hgvsWellDefined": "NP_001121190.2:p.Gln1202_Gln1668delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676947"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139763991",
      "coordinates": [
        {
          "allele": "T",
          "end": 8830,
          "referenceAllele": "C",
          "start": 8829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.3:c.8599C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Gln2867Ter",
        "hgvsWellDefined": "NP_937762.2:p.Gln2867_Gln3333delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094079",
      "coordinates": [
        {
          "allele": "T",
          "end": 3797,
          "referenceAllele": "C",
          "start": 3796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.6:c.3772C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Gln1258Ter",
        "hgvsWellDefined": "NP_000218.3:p.Gln1258_Gln1724delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.3772C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.3772C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:p.Gln1258Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:p.Gln1258Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659560",
      "coordinates": [
        {
          "allele": "T",
          "end": 8662,
          "referenceAllele": "C",
          "start": 8661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.4:c.8431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Gln2811Ter",
        "hgvsWellDefined": "NP_001121189.2:p.Gln2811_Gln3277delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712231"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825660393",
      "coordinates": [
        {
          "allele": "T",
          "end": 3629,
          "referenceAllele": "C",
          "start": 3628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.4:c.3604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Gln1202Ter",
        "hgvsWellDefined": "NP_001121190.2:p.Gln1202_Gln1668delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139763991",
      "coordinates": [
        {
          "allele": "T",
          "end": 8830,
          "referenceAllele": "C",
          "start": 8829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.4:c.8599C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Gln2867Ter",
        "hgvsWellDefined": "NP_937762.2:p.Gln2867_Gln3333delinsLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.8599C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.8599C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Gln2867Ter"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Gln2867Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}