{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257291",
  "communityStandardTitle": [
    "NM_005562.3(LAMC2):c.1659C>A (p.Cys553Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29596[alleleid]",
        "alleleId": 29596,
        "preferredName": "NM_005562.3(LAMC2):c.1659C>A (p.Cys553Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14557",
        "RCV": [
          "RCV000794274",
          "RCV002051624"
        ],
        "variationId": 14557
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183197699C>A?assembly=hg19",
        "id": "chr1:g.183197699C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183228564C>A?assembly=hg38",
        "id": "chr1:g.183228564C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203900",
        "rs": 118203900
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-183228564-C-A?dataset=gnomad_r4",
        "id": "1-183228564-C-A",
        "variant": "1:183228564 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 183228564,
          "referenceAllele": "C",
          "start": 183228563
        }
      ],
      "hgvs": [
        "NC_000001.11:g.183228564C>A",
        "CM000663.2:g.183228564C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 183197699,
          "referenceAllele": "C",
          "start": 183197698
        }
      ],
      "hgvs": [
        "NC_000001.10:g.183197699C>A",
        "CM000663.1:g.183197699C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 181464322,
          "referenceAllele": "C",
          "start": 181464321
        }
      ],
      "hgvs": [
        "NC_000001.9:g.181464322C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47301,
          "referenceAllele": "C",
          "start": 47300
        }
      ],
      "hgvs": [
        "NG_007079.2:g.47301C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000459"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.5:c.1659C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Cys553Ter",
        "hgvsWellDefined": "ENSP00000264144.4:p.Cys553_Gln1193delinsLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.1659C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.1659C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Cys553Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Cys553Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "C",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.4:c.1659C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Cys553Ter",
        "hgvsWellDefined": "ENSP00000264144.4:p.Cys553_Gln1193delinsLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1774,
          "referenceAllele": "C",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000493293.5:c.1659C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432063.1:p.Cys553Ter",
        "hgvsWellDefined": "ENSP00000432063.1:p.Cys553_Met1111delinsLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257292",
      "coordinates": [
        {
          "allele": "A",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.2:c.1659C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Cys553Ter",
        "hgvsWellDefined": "NP_005553.2:p.Cys553_Gln1193delinsLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068525",
      "coordinates": [
        {
          "allele": "A",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.2:c.1659C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:p.Cys553Ter",
        "hgvsWellDefined": "NP_061486.2:p.Cys553_Met1111delinsLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "XM_017001273.2:c.1659C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856762.1:p.Cys553Ter",
        "hgvsWellDefined": "XP_016856762.1:p.Cys553_Arg742delinsLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257292",
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.3:c.1659C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Cys553Ter",
        "hgvsWellDefined": "NP_005553.2:p.Cys553_Gln1193delinsLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.1659C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.1659C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Cys553Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Cys553Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068525",
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.3:c.1659C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:p.Cys553Ter",
        "hgvsWellDefined": "NP_061486.2:p.Cys553_Met1111delinsLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698092"
    }
  ],
  "type": "nucleotide"
}