{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7327340",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.967C>T (p.Leu323=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=339935[alleleid]",
        "alleleId": 339935,
        "preferredName": "NM_000295.5(SERPINA1):c.967C>T (p.Leu323=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/315024",
        "RCV": [
          "RCV000407407",
          "RCV003298374"
        ],
        "variationId": 315024
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-94845899-G-A",
        "id": "14-94845899-G-A",
        "variant": "14:94845899 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94845899G>A?assembly=hg19",
        "id": "chr14:g.94845899G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94379562G>A?assembly=hg38",
        "id": "chr14:g.94379562G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150455534",
        "rs": 150455534
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-94845899-G-A?dataset=gnomad_r2_1",
        "id": "14-94845899-G-A",
        "variant": "14:94845899 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-94379562-G-A?dataset=gnomad_r3",
        "id": "14-94379562-G-A",
        "variant": "14:94379562 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-94379562-G-A?dataset=gnomad_r4",
        "id": "14-94379562-G-A",
        "variant": "14:94379562 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 94379562,
          "referenceAllele": "G",
          "start": 94379561
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94379562G>A",
        "CM000676.2:g.94379562G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 94845899,
          "referenceAllele": "G",
          "start": 94845898
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94845899G>A",
        "CM000676.1:g.94845899G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 93915652,
          "referenceAllele": "G",
          "start": 93915651
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93915652G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16131,
          "referenceAllele": "C",
          "start": 16130
        }
      ],
      "hgvs": [
        "NG_008290.1:g.16131C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "C",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.967C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.967C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Leu323="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Leu323="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000636712.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490054.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1232,
          "referenceAllele": "C",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.8:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1522,
          "referenceAllele": "C",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393088.8:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376803.4:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000402629.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386094.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1278,
          "referenceAllele": "C",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000404814.8:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385960.4:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "C",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000449399.7:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416354.3:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000489769.1:c.*266C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451525.1:n.*266C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108696",
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245114",
      "coordinates": [
        {
          "allele": "T",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245774",
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655726",
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655948",
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656225",
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "C",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656526",
      "coordinates": [
        {
          "allele": "T",
          "end": 1503,
          "referenceAllele": "C",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656827",
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657128",
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657429",
      "coordinates": [
        {
          "allele": "T",
          "end": 1311,
          "referenceAllele": "C",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657615",
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1408,
          "referenceAllele": "C",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108696",
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "C",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.967C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.967C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Leu323="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Leu323="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245114",
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245774",
      "coordinates": [
        {
          "allele": "T",
          "end": 1464,
          "referenceAllele": "C",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655726",
      "coordinates": [
        {
          "allele": "T",
          "end": 1187,
          "referenceAllele": "C",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655948",
      "coordinates": [
        {
          "allele": "T",
          "end": 1483,
          "referenceAllele": "C",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656225",
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "C",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656526",
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "C",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656827",
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657128",
      "coordinates": [
        {
          "allele": "T",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657429",
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "C",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657615",
      "coordinates": [
        {
          "allele": "T",
          "end": 1251,
          "referenceAllele": "C",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Leu323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}