{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8916086",
  "communityStandardTitle": [
    "NM_198129.4(LAMA3):c.5522G>A (p.Arg1841His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4697245"
      },
      {
        "active": false,
        "id": "COSM4697246"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=330882[alleleid]",
        "alleleId": 330882,
        "preferredName": "NM_198129.4(LAMA3):c.5522G>A (p.Arg1841His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/326300",
        "RCV": [
          "RCV000313197",
          "RCV000393787",
          "RCV000906036"
        ],
        "variationId": 326300
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-21474931-G-A",
        "id": "18-21474931-G-A",
        "variant": "18:21474931 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21474931G>A?assembly=hg19",
        "id": "chr18:g.21474931G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23894967G>A?assembly=hg38",
        "id": "chr18:g.23894967G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144475991",
        "rs": 144475991
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-21474931-G-A?dataset=gnomad_r2_1",
        "id": "18-21474931-G-A",
        "variant": "18:21474931 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23894967-G-A?dataset=gnomad_r3",
        "id": "18-23894967-G-A",
        "variant": "18:23894967 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23894967-G-A?dataset=gnomad_r4",
        "id": "18-23894967-G-A",
        "variant": "18:23894967 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 23894967,
          "referenceAllele": "G",
          "start": 23894966
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23894967G>A",
        "CM000680.2:g.23894967G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 21474931,
          "referenceAllele": "G",
          "start": 21474930
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21474931G>A",
        "CM000680.1:g.21474931G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 19728929,
          "referenceAllele": "G",
          "start": 19728928
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19728929G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210370,
          "referenceAllele": "G",
          "start": 210369
        }
      ],
      "hgvs": [
        "NG_007853.2:g.210370G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000677"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000269217.11:c.695G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269217.5:p.Arg232His",
        "hgvsWellDefined": "ENSP00000269217.5:p.Arg232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743099",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.695G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.695G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:p.Arg232His"
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:p.Arg232His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5753,
          "referenceAllele": "G",
          "start": 5752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.14:c.5522G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:p.Arg1841His",
        "hgvsWellDefined": "ENSP00000324532.8:p.Arg1841His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.5522G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.5522G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Arg1841His"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Arg1841His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2414,
          "referenceAllele": "G",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000649721.1:c.2414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497885.1:p.Arg805His",
        "hgvsWellDefined": "ENSP00000497885.1:p.Arg805His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "referenceAllele": "G",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000269217.10:c.695G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269217.5:p.Arg232His",
        "hgvsWellDefined": "ENSP00000269217.5:p.Arg232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5763,
          "referenceAllele": "G",
          "start": 5762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.13:c.5522G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:p.Arg1841His",
        "hgvsWellDefined": "ENSP00000324532.8:p.Arg1841His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5522,
          "referenceAllele": "G",
          "start": 5521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000399516.7:c.5522G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382432.2:p.Arg1841His",
        "hgvsWellDefined": "ENSP00000382432.2:p.Arg1841His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "referenceAllele": "G",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000586751.5:c.300G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000587184.5:c.695G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466557.1:p.Arg232His",
        "hgvsWellDefined": "ENSP00000466557.1:p.Arg232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645508835",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.4:c.695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Arg232His",
        "hgvsWellDefined": "NP_000218.3:p.Arg232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659056",
      "coordinates": [
        {
          "allele": "A",
          "end": 5763,
          "referenceAllele": "G",
          "start": 5762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.2:c.5522G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Arg1841His",
        "hgvsWellDefined": "NP_001121189.2:p.Arg1841His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915968526",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.2:c.695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Arg232His",
        "hgvsWellDefined": "NP_001121190.2:p.Arg232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830427413",
      "coordinates": [
        {
          "allele": "A",
          "end": 5763,
          "referenceAllele": "G",
          "start": 5762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.2:c.5522G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Arg1841His",
        "hgvsWellDefined": "NP_937762.2:p.Arg1841His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5790,
          "referenceAllele": "G",
          "start": 5789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.1:c.5549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:p.Arg1850His",
        "hgvsWellDefined": "XP_011524280.1:p.Arg1850His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5781,
          "referenceAllele": "G",
          "start": 5780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.1:c.5540G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:p.Arg1847His",
        "hgvsWellDefined": "XP_011524281.1:p.Arg1847His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5772,
          "referenceAllele": "G",
          "start": 5771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.1:c.5531G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:p.Arg1844His",
        "hgvsWellDefined": "XP_011524282.1:p.Arg1844His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5658,
          "referenceAllele": "G",
          "start": 5657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.1:c.5417G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:p.Arg1806His",
        "hgvsWellDefined": "XP_011524283.1:p.Arg1806His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5790,
          "referenceAllele": "G",
          "start": 5789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.1:c.5549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:p.Arg1850His",
        "hgvsWellDefined": "XP_011524284.1:p.Arg1850His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5790,
          "referenceAllele": "G",
          "start": 5789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.2:c.5549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:p.Arg1850His",
        "hgvsWellDefined": "XP_011524280.1:p.Arg1850His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5781,
          "referenceAllele": "G",
          "start": 5780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.2:c.5540G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:p.Arg1847His",
        "hgvsWellDefined": "XP_011524281.1:p.Arg1847His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5772,
          "referenceAllele": "G",
          "start": 5771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.2:c.5531G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:p.Arg1844His",
        "hgvsWellDefined": "XP_011524282.1:p.Arg1844His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5658,
          "referenceAllele": "G",
          "start": 5657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.2:c.5417G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:p.Arg1806His",
        "hgvsWellDefined": "XP_011524283.1:p.Arg1806His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5790,
          "referenceAllele": "G",
          "start": 5789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.2:c.5549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:p.Arg1850His",
        "hgvsWellDefined": "XP_011524284.1:p.Arg1850His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3474,
          "referenceAllele": "G",
          "start": 3473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025743.1:c.3401G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881232.1:p.Arg1134His",
        "hgvsWellDefined": "XP_016881232.1:p.Arg1134His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2155,
          "referenceAllele": "G",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025744.1:c.1091G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881233.1:p.Arg364His",
        "hgvsWellDefined": "XP_016881233.1:p.Arg364His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5790,
          "referenceAllele": "G",
          "start": 5789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XR_001753199.1:n.5790G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645508835",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.5:c.695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Arg232His",
        "hgvsWellDefined": "NP_000218.3:p.Arg232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659056",
      "coordinates": [
        {
          "allele": "A",
          "end": 5753,
          "referenceAllele": "G",
          "start": 5752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.3:c.5522G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Arg1841His",
        "hgvsWellDefined": "NP_001121189.2:p.Arg1841His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915968526",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.3:c.695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Arg232His",
        "hgvsWellDefined": "NP_001121190.2:p.Arg232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676947"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830427413",
      "coordinates": [
        {
          "allele": "A",
          "end": 5753,
          "referenceAllele": "G",
          "start": 5752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.3:c.5522G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Arg1841His",
        "hgvsWellDefined": "NP_937762.2:p.Arg1841His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645508835",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.6:c.695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Arg232His",
        "hgvsWellDefined": "NP_000218.3:p.Arg232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.695G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.695G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:p.Arg232His"
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:p.Arg232His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825659056",
      "coordinates": [
        {
          "allele": "A",
          "end": 5753,
          "referenceAllele": "G",
          "start": 5752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.4:c.5522G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Arg1841His",
        "hgvsWellDefined": "NP_001121189.2:p.Arg1841His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712231"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915968526",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.4:c.695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Arg232His",
        "hgvsWellDefined": "NP_001121190.2:p.Arg232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830427413",
      "coordinates": [
        {
          "allele": "A",
          "end": 5753,
          "referenceAllele": "G",
          "start": 5752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.4:c.5522G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Arg1841His",
        "hgvsWellDefined": "NP_937762.2:p.Arg1841His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.5522G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.5522G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Arg1841His"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Arg1841His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}