{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402045096",
  "communityStandardTitle": [
    "NM_198129.4(LAMA3):c.5112+1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4580343",
        "active": true,
        "id": "COSM4580343"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4580344",
        "active": true,
        "id": "COSM4580344"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=548611[alleleid]",
        "alleleId": 548611,
        "preferredName": "NM_198129.4(LAMA3):c.5112+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/552993",
        "RCV": [
          "RCV000668353",
          "RCV001222962"
        ],
        "variationId": 552993
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21456372G>A?assembly=hg19",
        "id": "chr18:g.21456372G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23876408G>A?assembly=hg38",
        "id": "chr18:g.23876408G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517023",
        "rs": 1057517023
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23876408-G-A?dataset=gnomad_r4",
        "id": "18-23876408-G-A",
        "variant": "18:23876408 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 23876408,
          "referenceAllele": "G",
          "start": 23876407
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23876408G>A",
        "CM000680.2:g.23876408G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 21456372,
          "referenceAllele": "G",
          "start": 21456371
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21456372G>A",
        "CM000680.1:g.21456372G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 19710370,
          "referenceAllele": "G",
          "start": 19710369
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19710370G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191811,
          "referenceAllele": "G",
          "start": 191810
        }
      ],
      "hgvs": [
        "NG_007853.2:g.191811G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000677"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000269217.11:c.285+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269217.5:n.285+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743099",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.285+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.285+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:n.285+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:n.285+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5343,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5343,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.14:c.5112+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:n.5112+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.5112+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.5112+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:n.5112+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:n.5112+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2004,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2004,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000649721.1:c.2004+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497885.1:n.2004+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000269217.10:c.285+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269217.5:n.285+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5353,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5353,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.13:c.5112+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:n.5112+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5112,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5112,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000399516.7:c.5112+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382432.2:n.5112+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000587184.5:c.285+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466557.1:n.285+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.4:c.285+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:n.285+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5353,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5353,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.2:c.5112+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:n.5112+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.2:c.285+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:n.285+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5353,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5353,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.2:c.5112+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:n.5112+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5380,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5380,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.1:c.5139+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:n.5139+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5371,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5371,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.1:c.5130+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:n.5130+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5362,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5362,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.1:c.5121+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:n.5121+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5248,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5248,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.1:c.5007+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:n.5007+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5380,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5380,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.1:c.5139+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:n.5139+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5380,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5380,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.2:c.5139+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:n.5139+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5371,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5371,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.2:c.5130+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:n.5130+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5362,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5362,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.2:c.5121+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:n.5121+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5248,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5248,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.2:c.5007+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:n.5007+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5380,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5380,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.2:c.5139+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:n.5139+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3064,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3064,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025743.1:c.2991+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881232.1:n.2991+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025744.1:c.681+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881233.1:n.681+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5380,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5380,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XR_001753199.1:n.5380+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.5:c.285+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:n.285+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5343,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5343,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.3:c.5112+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:n.5112+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.3:c.285+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:n.285+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5343,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5343,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.3:c.5112+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:n.5112+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.6:c.285+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:n.285+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.285+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.285+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:n.285+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:n.285+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5343,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5343,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.4:c.5112+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:n.5112+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.4:c.285+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:n.285+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5343,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5343,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.4:c.5112+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:n.5112+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.5112+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.5112+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:n.5112+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:n.5112+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}