{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA151258",
  "communityStandardTitle": [
    "NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132361[alleleid]",
        "alleleId": 132361,
        "preferredName": "NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126847",
        "RCV": [
          "RCV000114741",
          "RCV000780554",
          "RCV000857935",
          "RCV002498490"
        ],
        "variationId": 126847
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-11907430-T-G",
        "id": "1-11907430-T-G",
        "variant": "1:11907430 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11907430T>G?assembly=hg19",
        "id": "chr1:g.11907430T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11847373T>G?assembly=hg38",
        "id": "chr1:g.11847373T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61757261",
        "rs": 61757261
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11907430-T-G?dataset=gnomad_r2_1",
        "id": "1-11907430-T-G",
        "variant": "1:11907430 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11847373-T-G?dataset=gnomad_r3",
        "id": "1-11847373-T-G",
        "variant": "1:11847373 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11847373-T-G?dataset=gnomad_r4",
        "id": "1-11847373-T-G",
        "variant": "1:11847373 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11847373,
          "referenceAllele": "T",
          "start": 11847372
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11847373T>G",
        "CM000663.2:g.11847373T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11907430,
          "referenceAllele": "T",
          "start": 11907429
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11907430T>G",
        "CM000663.1:g.11907430T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11830017,
          "referenceAllele": "T",
          "start": 11830016
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11830017T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5411,
          "referenceAllele": "A",
          "start": 5410
        }
      ],
      "hgvs": [
        "NG_012926.1:g.5411A>C",
        "LRG_751:g.5411A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002623"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3490,
          "endIntronDirection": "-",
          "endIntronOffset": 203,
          "referenceAllele": "T",
          "start": 3490,
          "startIntronDirection": "-",
          "startIntronOffset": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "ENST00000400892.3:c.*1962-204T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496938.1:n.*1962-204T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 781,
          "endIntronDirection": "-",
          "endIntronOffset": 60,
          "referenceAllele": "T",
          "start": 781,
          "startIntronDirection": "-",
          "startIntronOffset": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037635",
      "geneNCBI_id": 100379251,
      "geneSymbol": "NPPA-AS1",
      "hgvs": [
        "ENST00000446542.5:n.782-61T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "A",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007939",
      "geneNCBI_id": 4878,
      "geneSymbol": "NPPA",
      "hgvs": [
        "ENST00000376476.1:c.40A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365659.1:p.Ser14Arg",
        "hgvsWellDefined": "ENSP00000365659.1:p.Ser14Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007939",
      "geneNCBI_id": 4878,
      "geneSymbol": "NPPA",
      "hgvs": [
        "ENST00000376480.7:c.190A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365663.3:p.Ser64Arg",
        "hgvsWellDefined": "ENSP00000365663.3:p.Ser64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376480.7:c.190A>C"
          },
          "RefSeq": {
            "hgvs": "NM_006172.4:c.190A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365663.3:p.Ser64Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006163.1:p.Ser64Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007939",
      "geneNCBI_id": 4878,
      "geneSymbol": "NPPA",
      "hgvs": [
        "ENST00000610706.1:c.190A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483195.1:p.Ser64Arg",
        "hgvsWellDefined": "ENSP00000483195.1:p.Ser64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151260",
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007939",
      "geneNCBI_id": 4878,
      "geneSymbol": "NPPA",
      "hgvs": [
        "NM_006172.3:c.190A>C",
        "LRG_751t1:c.190A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006163.1:p.Ser64Arg",
        "hgvsWellDefined": "NP_006163.1:p.Ser64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1479,
          "endIntronDirection": "-",
          "endIntronOffset": 60,
          "referenceAllele": "T",
          "start": 1479,
          "startIntronDirection": "-",
          "startIntronOffset": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037635",
      "geneNCBI_id": 100379251,
      "geneSymbol": "NPPA-AS1",
      "hgvs": [
        "NR_037806.1:n.1480-61T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151260",
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007939",
      "geneNCBI_id": 4878,
      "geneSymbol": "NPPA",
      "hgvs": [
        "NM_006172.4:c.190A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006163.1:p.Ser64Arg",
        "hgvsWellDefined": "NP_006163.1:p.Ser64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376480.7:c.190A>C"
          },
          "RefSeq": {
            "hgvs": "NM_006172.4:c.190A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365663.3:p.Ser64Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006163.1:p.Ser64Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}