{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3099644255",
  "communityStandardTitle": [
    "NM_021101.5(CLDN1):c.358G= (p.Val120=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/864309517",
        "rs": 864309517
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2473898850",
        "rs": 2473898850
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 190312902,
          "referenceAllele": "C",
          "start": 190312901
        }
      ],
      "hgvs": [
        "NC_000003.12:g.190312902C=",
        "CM000665.2:g.190312902C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 190030691,
          "referenceAllele": "C",
          "start": 190030690
        }
      ],
      "hgvs": [
        "NC_000003.11:g.190030691C=",
        "CM000665.1:g.190030691C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 191513385,
          "referenceAllele": "C",
          "start": 191513384
        }
      ],
      "hgvs": [
        "NC_000003.10:g.191513385C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14545,
          "referenceAllele": "G",
          "start": 14544
        }
      ],
      "hgvs": [
        "NG_021418.1:g.14545G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003643"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002032",
      "geneNCBI_id": 9076,
      "geneSymbol": "CLDN1",
      "hgvs": [
        "ENST00000295522.4:c.358G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295522.3:p.Val120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744299",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295522.4:c.358G="
          },
          "RefSeq": {
            "hgvs": "NM_021101.5:c.358G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295522.3:p.Val120="
          },
          "RefSeq": {
            "hgvs": "NP_066924.1:p.Val120="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "G",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002032",
      "geneNCBI_id": 9076,
      "geneSymbol": "CLDN1",
      "hgvs": [
        "ENST00000295522.3:c.358G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295522.3:p.Val120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254105"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002032",
      "geneNCBI_id": 9076,
      "geneSymbol": "CLDN1",
      "hgvs": [
        "ENST00000490800.1:n.317G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068888320",
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002032",
      "geneNCBI_id": 9076,
      "geneSymbol": "CLDN1",
      "hgvs": [
        "NM_021101.4:c.358G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066924.1:p.Val120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 202,
          "endIntronDirection": "-",
          "endIntronOffset": 1990,
          "referenceAllele": "C",
          "start": 202,
          "startIntronDirection": "-",
          "startIntronOffset": 1991
        }
      ],
      "hgvs": [
        "XR_001741069.1:n.203-1991C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068888320",
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002032",
      "geneNCBI_id": 9076,
      "geneSymbol": "CLDN1",
      "hgvs": [
        "NM_021101.5:c.358G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066924.1:p.Val120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295522.4:c.358G="
          },
          "RefSeq": {
            "hgvs": "NM_021101.5:c.358G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295522.3:p.Val120="
          },
          "RefSeq": {
            "hgvs": "NP_066924.1:p.Val120="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "endIntronDirection": "-",
          "endIntronOffset": 1990,
          "referenceAllele": "C",
          "start": 231,
          "startIntronDirection": "-",
          "startIntronOffset": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NM_001378492.1:c.-445-1991C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365421.1:n.-445-1991C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 22311,
          "referenceAllele": "C",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 22310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NM_001378493.1:c.-279+22311C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365422.1:n.-279+22311C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721736"
    }
  ],
  "type": "nucleotide"
}