{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645582231",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.1178_1179delinsTT (p.Pro393Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4564416",
        "active": true,
        "id": "COSM4564416"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "AA",
          "end": 94378528,
          "referenceAllele": "GG",
          "start": 94378526
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94378527_94378528delinsAA",
        "CM000676.2:g.94378527_94378528delinsAA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "AA",
          "end": 94844865,
          "referenceAllele": "GG",
          "start": 94844863
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94844864_94844865delinsAA",
        "CM000676.1:g.94844864_94844865delinsAA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "AA",
          "end": 93914618,
          "referenceAllele": "GG",
          "start": 93914616
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93914617_93914618delinsAA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 17166,
          "referenceAllele": "CC",
          "start": 17164
        }
      ],
      "hgvs": [
        "NG_008290.1:g.17165_17166delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1226,
          "referenceAllele": "CC",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Pro393Leu",
        "hgvsWellDefined": "ENSP00000376802.4:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.1178_1179delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.1178_1179delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Pro393Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Pro393Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1331,
          "referenceAllele": "CC",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000636712.1:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490054.1:p.Pro393Leu",
        "hgvsWellDefined": "ENSP00000490054.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763327"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1456,
          "referenceAllele": "CC",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:p.Pro393Leu",
        "hgvsWellDefined": "ENSP00000348068.4:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1444,
          "referenceAllele": "CC",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.8:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Pro393Leu",
        "hgvsWellDefined": "ENSP00000376802.4:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1734,
          "referenceAllele": "CC",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393088.8:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376803.4:p.Pro393Leu",
        "hgvsWellDefined": "ENSP00000376803.4:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275447"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1490,
          "referenceAllele": "CC",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000404814.8:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385960.4:p.Pro393Leu",
        "hgvsWellDefined": "ENSP00000385960.4:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280169"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1560,
          "referenceAllele": "CC",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:p.Pro393Leu",
        "hgvsWellDefined": "ENSP00000408474.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1364,
          "referenceAllele": "CC",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:p.Pro393Leu",
        "hgvsWellDefined": "ENSP00000390299.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1752,
          "referenceAllele": "CC",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:p.Pro393Leu",
        "hgvsWellDefined": "ENSP00000416066.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1481,
          "referenceAllele": "CC",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000449399.7:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416354.3:p.Pro393Leu",
        "hgvsWellDefined": "ENSP00000416354.3:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300207"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1408,
          "referenceAllele": "CC",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000489769.1:c.*477_*478delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451525.1:n.*477_*478delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127663",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1440,
          "referenceAllele": "CC",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Pro393Leu",
        "hgvsWellDefined": "NP_000286.3:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127664",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1419,
          "referenceAllele": "CC",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001002235.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127665",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1733,
          "referenceAllele": "CC",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001002236.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127666",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1456,
          "referenceAllele": "CC",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121172.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127667",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1752,
          "referenceAllele": "CC",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121173.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127668",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1560,
          "referenceAllele": "CC",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121174.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127669",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1715,
          "referenceAllele": "CC",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121175.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127670",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1712,
          "referenceAllele": "CC",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121176.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127671",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1730,
          "referenceAllele": "CC",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121177.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127672",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1523,
          "referenceAllele": "CC",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121178.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127673",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1520,
          "referenceAllele": "CC",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121179.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1620,
          "referenceAllele": "CC",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Pro393Leu",
        "hgvsWellDefined": "XP_016876859.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127663",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1226,
          "referenceAllele": "CC",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Pro393Leu",
        "hgvsWellDefined": "NP_000286.3:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.1178_1179delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.1178_1179delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Pro393Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Pro393Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA127664",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1362,
          "referenceAllele": "CC",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001002235.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127665",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1676,
          "referenceAllele": "CC",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001002236.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127666",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1399,
          "referenceAllele": "CC",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121172.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127667",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1695,
          "referenceAllele": "CC",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121173.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127668",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1503,
          "referenceAllele": "CC",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121174.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127669",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1658,
          "referenceAllele": "CC",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121175.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127670",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1655,
          "referenceAllele": "CC",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121176.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127671",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1673,
          "referenceAllele": "CC",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121177.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127672",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1466,
          "referenceAllele": "CC",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121178.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127673",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1463,
          "referenceAllele": "CC",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.1178_1179delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Pro393Leu",
        "hgvsWellDefined": "NP_001121179.1:p.Pro393Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}