{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2155954887",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.230C= (p.Ser77=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55819880",
        "rs": 55819880
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 94383008,
          "referenceAllele": "G",
          "start": 94383007
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94383008G=",
        "CM000676.2:g.94383008G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 94849345,
          "referenceAllele": "G",
          "start": 94849344
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94849345G=",
        "CM000676.1:g.94849345G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 93919098,
          "referenceAllele": "G",
          "start": 93919097
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93919098G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12685,
          "referenceAllele": "C",
          "start": 12684
        }
      ],
      "hgvs": [
        "NG_008290.1:g.12685C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.230C="
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.230C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Ser77="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Ser77="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000636712.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490054.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.8:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393088.8:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376803.4:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 264,
          "referenceAllele": "C",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000402629.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386094.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000404814.8:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385960.4:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000449399.7:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416354.3:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000489769.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451525.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000553327.5:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452480.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 106,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000554720.1:c.-23-6C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450561.1:n.-23-6C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000556091.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452169.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000556955.5:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451098.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000557492.5:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452452.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108482",
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825244787",
      "coordinates": [
        {
          "allele": "C",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245412",
      "coordinates": [
        {
          "allele": "C",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655555",
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655836",
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656054",
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656356",
      "coordinates": [
        {
          "allele": "C",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656656",
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "referenceAllele": "C",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656957",
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657259",
      "coordinates": [
        {
          "allele": "C",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657531",
      "coordinates": [
        {
          "allele": "C",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108482",
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.230C="
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.230C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Ser77="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Ser77="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825244787",
      "coordinates": [
        {
          "allele": "C",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245412",
      "coordinates": [
        {
          "allele": "C",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655555",
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655836",
      "coordinates": [
        {
          "allele": "C",
          "end": 746,
          "referenceAllele": "C",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656054",
      "coordinates": [
        {
          "allele": "C",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656356",
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656656",
      "coordinates": [
        {
          "allele": "C",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656957",
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657259",
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657531",
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.230C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Ser77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}