{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA220792",
  "communityStandardTitle": [
    "NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3858199",
        "active": true,
        "id": "COSM3858199"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98887[alleleid]",
        "alleleId": 98887,
        "preferredName": "NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92980",
        "RCV": [
          "RCV000178685",
          "RCV000626687",
          "RCV000760398",
          "RCV001202930"
        ],
        "variationId": 92980
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-129781432-C-T",
        "id": "6-129781432-C-T",
        "variant": "6:129781432 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.129781432C>T?assembly=hg19",
        "id": "chr6:g.129781432C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.129460287C>T?assembly=hg38",
        "id": "chr6:g.129460287C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123383",
        "rs": 398123383
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-129781432-C-T?dataset=gnomad_r2_1",
        "id": "6-129781432-C-T",
        "variant": "6:129781432 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-129460287-C-T?dataset=gnomad_r3",
        "id": "6-129460287-C-T",
        "variant": "6:129460287 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-129460287-C-T?dataset=gnomad_r4",
        "id": "6-129460287-C-T",
        "variant": "6:129460287 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 129460287,
          "referenceAllele": "C",
          "start": 129460286
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      ],
      "hgvs": [
        "NC_000006.12:g.129460287C>T",
        "CM000668.2:g.129460287C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 129781432,
          "referenceAllele": "C",
          "start": 129781431
        }
      ],
      "hgvs": [
        "NC_000006.11:g.129781432C>T",
        "CM000668.1:g.129781432C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 129823125,
          "referenceAllele": "C",
          "start": 129823124
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      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582147,
          "referenceAllele": "C",
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      ],
      "hgvs": [
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        "LRG_409:g.582147C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001163"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7327,
          "referenceAllele": "C",
          "start": 7326
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      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
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      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS829824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "ENST00000688150.1:n.294C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS831463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7063,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "ENST00000421865.3:c.6955C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000400365.2:p.Arg2319Ter",
        "hgvsWellDefined": "ENSP00000400365.2:p.Arg2319_Asn3122delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754907",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000421865.3:c.6955C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000426.4:c.6955C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400365.2:p.Arg2319Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000417.3:p.Arg2319Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7004,
          "referenceAllele": "C",
          "start": 7003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "ENST00000421865.2:c.6955C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000400365.2:p.Arg2319Ter",
        "hgvsWellDefined": "ENSP00000400365.2:p.Arg2319_Asn3122delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7060,
          "referenceAllele": "C",
          "start": 7059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "ENST00000617695.4:c.6955C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481744.1:p.Arg2319Ter",
        "hgvsWellDefined": "ENSP00000481744.1:p.Arg2319_Asn3118delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7057,
          "referenceAllele": "C",
          "start": 7056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "ENST00000618192.4:c.6952C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480802.1:p.Arg2318Ter",
        "hgvsWellDefined": "ENSP00000480802.1:p.Arg2318_Asn3121delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220793",
      "coordinates": [
        {
          "allele": "T",
          "end": 7060,
          "referenceAllele": "C",
          "start": 7059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "NM_000426.3:c.6955C>T",
        "LRG_409t1:c.6955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000417.2:p.Arg2319Ter",
        "hgvsWellDefined": "NP_000417.2:p.Arg2319_Asn3122delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrValIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7060,
          "referenceAllele": "C",
          "start": 7059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "NM_001079823.1:c.6955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073291.1:p.Arg2319Ter",
        "hgvsWellDefined": "NP_001073291.1:p.Arg2319_Asn3118delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrValIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7324,
          "referenceAllele": "C",
          "start": 7323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "XM_005266981.2:c.7219C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267038.1:p.Arg2407Ter",
        "hgvsWellDefined": "XP_005267038.1:p.Arg2407_Asn3210delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7324,
          "referenceAllele": "C",
          "start": 7323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "XM_005266982.2:c.7219C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267039.1:p.Arg2407Ter",
        "hgvsWellDefined": "XP_005267039.1:p.Arg2407_Asn3206delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7318,
          "referenceAllele": "C",
          "start": 7317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "XM_011535820.1:c.7213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534122.1:p.Arg2405Ter",
        "hgvsWellDefined": "XP_011534122.1:p.Arg2405_Asn3208delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7324,
          "referenceAllele": "C",
          "start": 7323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "XM_005266981.3:c.7219C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267038.1:p.Arg2407Ter",
        "hgvsWellDefined": "XP_005267038.1:p.Arg2407_Asn3210delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7324,
          "referenceAllele": "C",
          "start": 7323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "XM_005266982.3:c.7219C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267039.1:p.Arg2407Ter",
        "hgvsWellDefined": "XP_005267039.1:p.Arg2407_Asn3206delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7318,
          "referenceAllele": "C",
          "start": 7317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "XM_011535820.2:c.7213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534122.1:p.Arg2405Ter",
        "hgvsWellDefined": "XP_011534122.1:p.Arg2405_Asn3208delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9713,
          "referenceAllele": "C",
          "start": 9712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "XM_017010851.2:c.7225C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866340.1:p.Arg2409Ter",
        "hgvsWellDefined": "XP_016866340.1:p.Arg2409_Asn3212delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8601,
          "referenceAllele": "C",
          "start": 8600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "XM_017010852.1:c.5350C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866341.1:p.Arg1784Ter",
        "hgvsWellDefined": "XP_016866341.1:p.Arg1784_Asn2587delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825168665",
      "coordinates": [
        {
          "allele": "T",
          "end": 7063,
          "referenceAllele": "C",
          "start": 7062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "NM_000426.4:c.6955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000417.3:p.Arg2319Ter",
        "hgvsWellDefined": "NP_000417.3:p.Arg2319_Asn3122delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuSerMetLysAlaArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000421865.3:c.6955C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000426.4:c.6955C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400365.2:p.Arg2319Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000417.3:p.Arg2319Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967614",
      "coordinates": [
        {
          "allele": "T",
          "end": 7063,
          "referenceAllele": "C",
          "start": 7062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "NM_001079823.2:c.6955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073291.2:p.Arg2319Ter",
        "hgvsWellDefined": "NP_001073291.2:p.Arg2319_Asn3118delinsGluLysGluGlyAspCysLysGlyCysThrValSerProGlnValGluAspSerGluGlyThrIleGlnPheAspGlyGluGlyTyrAlaLeuValSerArgProIleArgTrpTyrProAsnIleSerThrValMetPheLysPheArgThrPheSerSerSerAlaLeuLeuMetTyrLeuAlaThrArgAspLeuArgAspPheMetSerValGluLeuThrAspGlyHisIleLysValSerTyrAspLeuGlySerGlyMetAlaSerValValSerAsnGlnAsnHisAsnAspGlyLysTrpLysSerPheThrLeuSerArgIleGlnLysGlnAlaAsnIleSerIleValAspIleAspThrAsnGlnGluGluAsnIleAlaThrSerSerSerGlyAsnAsnPheGlyLeuAspLeuLysAlaAspAspLysIleTyrPheGlyGlyLeuProThrLeuArgAsnLeuArgProGluValAsnLeuLysLysTyrSerGlyCysLeuLysAspIleGluIleSerArgThrProTyrAsnIleLeuSerSerProAspTyrValGlyValThrLysGlyCysSerLeuGluAsnValTyrThrValSerPheProLysProGlyPheValGluLeuSerProValProIleAspValGlyThrGluIleAsnLeuSerPheSerThrLysAsnGluSerGlyIleIleLeuLeuGlySerGlyGlyThrProAlaProProArgArgLysArgArgGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676226"
    }
  ],
  "type": "nucleotide"
}