{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402064235",
  "communityStandardTitle": [
    "NM_198129.4(LAMA3):c.8420T>G (p.Leu2807Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2981572[alleleid]",
        "alleleId": 2981572,
        "preferredName": "NM_198129.4(LAMA3):c.8420T>G (p.Leu2807Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2820486",
        "RCV": [
          "RCV003709214"
        ],
        "variationId": 2820486
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21508713T>G?assembly=hg19",
        "id": "chr18:g.21508713T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23928749T>G?assembly=hg38",
        "id": "chr18:g.23928749T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2511547994",
        "rs": 2511547994
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23928749-T-G?dataset=gnomad_r4",
        "id": "18-23928749-T-G",
        "variant": "18:23928749 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 23928749,
          "referenceAllele": "T",
          "start": 23928748
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23928749T>G",
        "CM000680.2:g.23928749T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 21508713,
          "referenceAllele": "T",
          "start": 21508712
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      ],
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        "NC_000018.9:g.21508713T>G",
        "CM000680.1:g.21508713T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
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          "end": 19762711,
          "referenceAllele": "T",
          "start": 19762710
        }
      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 244152,
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      ],
      "hgvs": [
        "NG_007853.2:g.244152T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000677"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 3617
        }
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      "geneNCBI_id": 3909,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743099",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
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          "RefSeq": {
            "hgvs": "NM_000227.6:c.3593T>G"
          }
        },
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            "hgvs": "ENSP00000269217.5:p.Leu1198Ter"
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          "RefSeq": {
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          }
        }
      }
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      "coordinates": [
        {
          "allele": "G",
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          "start": 8650
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      ],
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      "geneNCBI_id": 3909,
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      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.8420T>G"
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          "RefSeq": {
            "hgvs": "NM_198129.4:c.8420T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Leu2807Ter"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Leu2807Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5015,
          "referenceAllele": "T",
          "start": 5014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000649721.1:c.5015T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497885.1:p.Leu1672Ter",
        "hgvsWellDefined": "ENSP00000497885.1:p.Leu1672_Gln2198delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3798,
          "referenceAllele": "T",
          "start": 3797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000269217.10:c.3593T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269217.5:p.Leu1198Ter",
        "hgvsWellDefined": "ENSP00000269217.5:p.Leu1198_Gln1724delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8661,
          "referenceAllele": "T",
          "start": 8660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.13:c.8420T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:p.Leu2807Ter",
        "hgvsWellDefined": "ENSP00000324532.8:p.Leu2807_Gln3333delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8252,
          "referenceAllele": "T",
          "start": 8251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000399516.7:c.8252T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382432.2:p.Leu2751Ter",
        "hgvsWellDefined": "ENSP00000382432.2:p.Leu2751_Gln3277delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3198,
          "referenceAllele": "T",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000586751.5:c.3198T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3425,
          "referenceAllele": "T",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000587184.5:c.3425T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466557.1:p.Leu1142Ter",
        "hgvsWellDefined": "ENSP00000466557.1:p.Leu1142_Gln1668delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125,
          "referenceAllele": "T",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000588164.2:c.125T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467473.2:p.Leu42Ter",
        "hgvsWellDefined": "ENSP00000467473.2:p.Leu42_Gly94delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390591"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2998,
          "referenceAllele": "T",
          "start": 2997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000588770.5:n.2998T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094036",
      "coordinates": [
        {
          "allele": "G",
          "end": 3618,
          "referenceAllele": "T",
          "start": 3617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.4:c.3593T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Leu1198Ter",
        "hgvsWellDefined": "NP_000218.3:p.Leu1198_Gln1724delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659524",
      "coordinates": [
        {
          "allele": "G",
          "end": 8493,
          "referenceAllele": "T",
          "start": 8492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.2:c.8252T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Leu2751Ter",
        "hgvsWellDefined": "NP_001121189.2:p.Leu2751_Gln3277delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825660357",
      "coordinates": [
        {
          "allele": "G",
          "end": 3450,
          "referenceAllele": "T",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.2:c.3425T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Leu1142Ter",
        "hgvsWellDefined": "NP_001121190.2:p.Leu1142_Gln1668delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742030342",
      "coordinates": [
        {
          "allele": "G",
          "end": 8661,
          "referenceAllele": "T",
          "start": 8660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.2:c.8420T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Leu2807Ter",
        "hgvsWellDefined": "NP_937762.2:p.Leu2807_Gln3333delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8688,
          "referenceAllele": "T",
          "start": 8687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.1:c.8447T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:p.Leu2816Ter",
        "hgvsWellDefined": "XP_011524280.1:p.Leu2816_Gln3342delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8679,
          "referenceAllele": "T",
          "start": 8678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.1:c.8438T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:p.Leu2813Ter",
        "hgvsWellDefined": "XP_011524281.1:p.Leu2813_Gln3339delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8670,
          "referenceAllele": "T",
          "start": 8669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.1:c.8429T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:p.Leu2810Ter",
        "hgvsWellDefined": "XP_011524282.1:p.Leu2810_Gln3336delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8556,
          "referenceAllele": "T",
          "start": 8555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.1:c.8315T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:p.Leu2772Ter",
        "hgvsWellDefined": "XP_011524283.1:p.Leu2772_Gln3298delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8391,
          "referenceAllele": "T",
          "start": 8390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.1:c.8150T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:p.Leu2717Ter",
        "hgvsWellDefined": "XP_011524284.1:p.Leu2717_Gln3243delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8688,
          "referenceAllele": "T",
          "start": 8687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.2:c.8447T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:p.Leu2816Ter",
        "hgvsWellDefined": "XP_011524280.1:p.Leu2816_Gln3342delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8679,
          "referenceAllele": "T",
          "start": 8678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.2:c.8438T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:p.Leu2813Ter",
        "hgvsWellDefined": "XP_011524281.1:p.Leu2813_Gln3339delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8670,
          "referenceAllele": "T",
          "start": 8669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.2:c.8429T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:p.Leu2810Ter",
        "hgvsWellDefined": "XP_011524282.1:p.Leu2810_Gln3336delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8556,
          "referenceAllele": "T",
          "start": 8555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.2:c.8315T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:p.Leu2772Ter",
        "hgvsWellDefined": "XP_011524283.1:p.Leu2772_Gln3298delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8391,
          "referenceAllele": "T",
          "start": 8390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.2:c.8150T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:p.Leu2717Ter",
        "hgvsWellDefined": "XP_011524284.1:p.Leu2717_Gln3243delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6372,
          "referenceAllele": "T",
          "start": 6371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025743.1:c.6299T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881232.1:p.Leu2100Ter",
        "hgvsWellDefined": "XP_016881232.1:p.Leu2100_Gln2626delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5053,
          "referenceAllele": "T",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025744.1:c.3989T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881233.1:p.Leu1330Ter",
        "hgvsWellDefined": "XP_016881233.1:p.Leu1330_Gln1856delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8688,
          "referenceAllele": "T",
          "start": 8687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XR_001753199.1:n.8688T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094036",
      "coordinates": [
        {
          "allele": "G",
          "end": 3618,
          "referenceAllele": "T",
          "start": 3617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.5:c.3593T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Leu1198Ter",
        "hgvsWellDefined": "NP_000218.3:p.Leu1198_Gln1724delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659524",
      "coordinates": [
        {
          "allele": "G",
          "end": 8483,
          "referenceAllele": "T",
          "start": 8482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.3:c.8252T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Leu2751Ter",
        "hgvsWellDefined": "NP_001121189.2:p.Leu2751_Gln3277delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825660357",
      "coordinates": [
        {
          "allele": "G",
          "end": 3450,
          "referenceAllele": "T",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.3:c.3425T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Leu1142Ter",
        "hgvsWellDefined": "NP_001121190.2:p.Leu1142_Gln1668delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676947"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742030342",
      "coordinates": [
        {
          "allele": "G",
          "end": 8651,
          "referenceAllele": "T",
          "start": 8650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.3:c.8420T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Leu2807Ter",
        "hgvsWellDefined": "NP_937762.2:p.Leu2807_Gln3333delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094036",
      "coordinates": [
        {
          "allele": "G",
          "end": 3618,
          "referenceAllele": "T",
          "start": 3617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.6:c.3593T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Leu1198Ter",
        "hgvsWellDefined": "NP_000218.3:p.Leu1198_Gln1724delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.3593T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.3593T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:p.Leu1198Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:p.Leu1198Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659524",
      "coordinates": [
        {
          "allele": "G",
          "end": 8483,
          "referenceAllele": "T",
          "start": 8482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.4:c.8252T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Leu2751Ter",
        "hgvsWellDefined": "NP_001121189.2:p.Leu2751_Gln3277delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712231"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825660357",
      "coordinates": [
        {
          "allele": "G",
          "end": 3450,
          "referenceAllele": "T",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.4:c.3425T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Leu1142Ter",
        "hgvsWellDefined": "NP_001121190.2:p.Leu1142_Gln1668delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742030342",
      "coordinates": [
        {
          "allele": "G",
          "end": 8651,
          "referenceAllele": "T",
          "start": 8650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.4:c.8420T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Leu2807Ter",
        "hgvsWellDefined": "NP_937762.2:p.Leu2807_Gln3333delinsAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.8420T>G"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.8420T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Leu2807Ter"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Leu2807Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}