{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2243024039",
  "communityStandardTitle": [
    "NM_002615.7(SERPINF1):c.295C= (p.Arg99=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307634",
        "rs": 1085307634
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 1771040,
          "referenceAllele": "C",
          "start": 1771039
        }
      ],
      "hgvs": [
        "NC_000017.11:g.1771040C=",
        "CM000679.2:g.1771040C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 1674334,
          "referenceAllele": "C",
          "start": 1674333
        }
      ],
      "hgvs": [
        "NC_000017.10:g.1674334C=",
        "CM000679.1:g.1674334C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 1621084,
          "referenceAllele": "C",
          "start": 1621083
        }
      ],
      "hgvs": [
        "NC_000017.9:g.1621084C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14076,
          "referenceAllele": "C",
          "start": 14075
        }
      ],
      "hgvs": [
        "NG_028180.1:g.14076C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004118"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000254722.9:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254722.4:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254722.9:c.295C="
          },
          "RefSeq": {
            "hgvs": "NM_002615.7:c.295C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254722.4:p.Arg99="
          },
          "RefSeq": {
            "hgvs": "NP_002606.3:p.Arg99="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "C",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000254722.8:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254722.4:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000570731.5:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459869.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000570820.1:n.515C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000571360.5:c.256C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461660.1:p.Arg86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000571870.5:n.536C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000573770.5:c.*145C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459107.1:n.*145C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 257,
          "referenceAllele": "C",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000576406.5:c.-267C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461214.1:n.-267C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384465"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000577053.1:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460842.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084295892",
      "coordinates": [
        {
          "allele": "C",
          "end": 452,
          "referenceAllele": "C",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.5:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329903.1:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001316832.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329904.1:c.-267C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001316833.1:n.-267C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084295892",
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.6:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084295892",
      "coordinates": [
        {
          "allele": "C",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.7:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665622",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254722.9:c.295C="
          },
          "RefSeq": {
            "hgvs": "NM_002615.7:c.295C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254722.4:p.Arg99="
          },
          "RefSeq": {
            "hgvs": "NP_002606.3:p.Arg99="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329903.2:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001316832.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329904.2:c.-267C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001316833.1:n.-267C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718575"
    }
  ],
  "type": "nucleotide"
}