{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10641189",
  "communityStandardTitle": [
    "NM_198129.4(LAMA3):c.5997G>A (p.Ser1999=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4953419",
        "active": true,
        "id": "COSM4953419"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4953420",
        "active": true,
        "id": "COSM4953420"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=330910[alleleid]",
        "alleleId": 330910,
        "preferredName": "NM_198129.4(LAMA3):c.5997G>A (p.Ser1999=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/326306",
        "RCV": [
          "RCV000271921",
          "RCV000326299",
          "RCV002056653"
        ],
        "variationId": 326306
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21479412G>A?assembly=hg19",
        "id": "chr18:g.21479412G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23899448G>A?assembly=hg38",
        "id": "chr18:g.23899448G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/564308785",
        "rs": 564308785
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-21479412-G-A?dataset=gnomad_r2_1",
        "id": "18-21479412-G-A",
        "variant": "18:21479412 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23899448-G-A?dataset=gnomad_r3",
        "id": "18-23899448-G-A",
        "variant": "18:23899448 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23899448-G-A?dataset=gnomad_r4",
        "id": "18-23899448-G-A",
        "variant": "18:23899448 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 23899448,
          "referenceAllele": "G",
          "start": 23899447
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23899448G>A",
        "CM000680.2:g.23899448G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 21479412,
          "referenceAllele": "G",
          "start": 21479411
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21479412G>A",
        "CM000680.1:g.21479412G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 19733410,
          "referenceAllele": "G",
          "start": 19733409
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19733410G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214851,
          "referenceAllele": "G",
          "start": 214850
        }
      ],
      "hgvs": [
        "NG_007853.2:g.214851G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000677"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000269217.11:c.1170G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269217.5:p.Ser390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743099",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.1170G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.1170G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:p.Ser390="
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:p.Ser390="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6228,
          "referenceAllele": "G",
          "start": 6227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.14:c.5997G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:p.Ser1999="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.5997G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.5997G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Ser1999="
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Ser1999="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2889,
          "referenceAllele": "G",
          "start": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000649721.1:c.2889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497885.1:p.Ser963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1375,
          "referenceAllele": "G",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000269217.10:c.1170G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269217.5:p.Ser390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6238,
          "referenceAllele": "G",
          "start": 6237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.13:c.5997G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:p.Ser1999="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5836,
          "endIntronDirection": "+",
          "endIntronOffset": 383,
          "referenceAllele": "G",
          "start": 5836,
          "startIntronDirection": "+",
          "startIntronOffset": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000399516.7:c.5836+383G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382432.2:n.5836+383G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000586709.1:n.385G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000586751.5:c.775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "endIntronDirection": "+",
          "endIntronOffset": 383,
          "referenceAllele": "G",
          "start": 1009,
          "startIntronDirection": "+",
          "startIntronOffset": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000587184.5:c.1009+383G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466557.1:n.1009+383G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000588770.5:n.575G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825093583",
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.4:c.1170G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Ser390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6077,
          "endIntronDirection": "+",
          "endIntronOffset": 383,
          "referenceAllele": "G",
          "start": 6077,
          "startIntronDirection": "+",
          "startIntronOffset": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.2:c.5836+383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:n.5836+383G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 383,
          "referenceAllele": "G",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.2:c.1009+383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:n.1009+383G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830427597",
      "coordinates": [
        {
          "allele": "A",
          "end": 6238,
          "referenceAllele": "G",
          "start": 6237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.2:c.5997G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Ser1999="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6265,
          "referenceAllele": "G",
          "start": 6264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.1:c.6024G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:p.Ser2008="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6256,
          "referenceAllele": "G",
          "start": 6255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.1:c.6015G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:p.Ser2005="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6247,
          "referenceAllele": "G",
          "start": 6246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.1:c.6006G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:p.Ser2002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6133,
          "referenceAllele": "G",
          "start": 6132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.1:c.5892G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:p.Ser1964="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6265,
          "referenceAllele": "G",
          "start": 6264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.1:c.6024G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:p.Ser2008="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6265,
          "referenceAllele": "G",
          "start": 6264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.2:c.6024G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:p.Ser2008="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6256,
          "referenceAllele": "G",
          "start": 6255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.2:c.6015G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:p.Ser2005="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6247,
          "referenceAllele": "G",
          "start": 6246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.2:c.6006G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:p.Ser2002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6133,
          "referenceAllele": "G",
          "start": 6132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.2:c.5892G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:p.Ser1964="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6265,
          "referenceAllele": "G",
          "start": 6264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.2:c.6024G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:p.Ser2008="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3949,
          "referenceAllele": "G",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025743.1:c.3876G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881232.1:p.Ser1292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2630,
          "referenceAllele": "G",
          "start": 2629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025744.1:c.1566G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881233.1:p.Ser522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6265,
          "referenceAllele": "G",
          "start": 6264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XR_001753199.1:n.6265G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825093583",
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.5:c.1170G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Ser390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6067,
          "endIntronDirection": "+",
          "endIntronOffset": 383,
          "referenceAllele": "G",
          "start": 6067,
          "startIntronDirection": "+",
          "startIntronOffset": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.3:c.5836+383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:n.5836+383G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 383,
          "referenceAllele": "G",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.3:c.1009+383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:n.1009+383G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676947"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830427597",
      "coordinates": [
        {
          "allele": "A",
          "end": 6228,
          "referenceAllele": "G",
          "start": 6227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.3:c.5997G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Ser1999="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825093583",
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.6:c.1170G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Ser390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.1170G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.1170G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:p.Ser390="
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:p.Ser390="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6067,
          "endIntronDirection": "+",
          "endIntronOffset": 383,
          "referenceAllele": "G",
          "start": 6067,
          "startIntronDirection": "+",
          "startIntronOffset": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.4:c.5836+383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:n.5836+383G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 383,
          "referenceAllele": "G",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.4:c.1009+383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:n.1009+383G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830427597",
      "coordinates": [
        {
          "allele": "A",
          "end": 6228,
          "referenceAllele": "G",
          "start": 6227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.4:c.5997G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Ser1999="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.5997G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.5997G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Ser1999="
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Ser1999="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}