{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2290299552",
  "communityStandardTitle": [
    "NM_198129.4(LAMA3):c.3720-325G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12373237",
        "rs": 12373237
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 23845972,
          "referenceAllele": "G",
          "start": 23845971
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23845972G=",
        "CM000680.2:g.23845972G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 21425936,
          "referenceAllele": "G",
          "start": 21425935
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21425936G=",
        "CM000680.1:g.21425936G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 19679934,
          "referenceAllele": "G",
          "start": 19679933
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19679934G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 161375,
          "referenceAllele": "G",
          "start": 161374
        }
      ],
      "hgvs": [
        "NG_007853.2:g.161375G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000677"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3950,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3950,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.14:c.3720-325G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:n.3720-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.3720-325G="
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.3720-325G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:n.3720-325G="
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:n.3720-325G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000649721.1:c.612-325G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497885.1:n.612-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3960,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3960,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.13:c.3720-325G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:n.3720-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3719,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3719,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000399516.7:c.3720-325G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382432.2:n.3720-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3960,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3960,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.2:c.3720-325G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:n.3720-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3960,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3960,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.2:c.3720-325G="
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:n.3720-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3987,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3987,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.1:c.3747-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:n.3747-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3978,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3978,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.1:c.3738-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:n.3738-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3969,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3969,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.1:c.3729-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:n.3729-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3855,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3855,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.1:c.3615-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:n.3615-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3987,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3987,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.1:c.3747-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:n.3747-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3987,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3987,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.2:c.3747-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:n.3747-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3978,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3978,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.2:c.3738-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:n.3738-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3969,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3969,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.2:c.3729-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:n.3729-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3855,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3855,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.2:c.3615-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:n.3615-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3987,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3987,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.2:c.3747-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:n.3747-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1671,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 1671,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025743.1:c.1599-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881232.1:n.1599-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 159,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025744.1:c.-905-325G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881233.1:n.-905-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3987,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3987,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XR_001753199.1:n.3988-325G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599792"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3950,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3950,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.3:c.3720-325G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:n.3720-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3950,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3950,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.3:c.3720-325G="
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:n.3720-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3950,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3950,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.4:c.3720-325G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:n.3720-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3950,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 3950,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.4:c.3720-325G="
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:n.3720-325G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.3720-325G="
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.3720-325G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:n.3720-325G="
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:n.3720-325G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}