×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.47840953C=
CA2034378327
12
g.47840953C>T
CA236503005
dbSNP
12
g.47840954A=
CA2034378328
12
g.47840954A>G
CA2034378329
dbSNP
12
g.47840958T>G
CA236503007
dbSNP
gnomAD v3
gnomAD v4
12
g.47840958T=
CA2034378330
12
g.47840972G>A
CA604847412
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.47840972G=
CA2034378331
12
g.47840977C>A
CA604847413
dbSNP
gnomAD v2
12
g.47840977C=
CA2034378332
12
g.47840979A=
CA2034378333
12
g.47840979A>G
CA689457775
dbSNP
gnomAD v3
gnomAD v4
12
g.47840981G>A
CA689457776
dbSNP
gnomAD v3
gnomAD v4
12
g.47840981G=
CA2034378334
12
g.47840982C=
CA2034378335
12
g.47840982C>T
CA947335194
dbSNP
gnomAD v3
gnomAD v4
12
g.47840984G>A
CA2034378337
dbSNP
12
g.47840984G=
CA2034378336
12
g.47840986G=
CA2034378338
12
g.47840986G>T
CA2034378339
dbSNP
12
g.47840988T>C
CA236503009
dbSNP
12
g.47840988T=
CA2034378340
12
g.47840992G>A
CA2034378342
dbSNP
12
g.47840992G=
CA2034378341
12
g.47840993T>C
CA689457778
dbSNP
12
g.47840993T=
CA2034378343
12
g.47840996A=
CA2034378344
12
g.47840996A>C
CA604847416
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.47840996A>G
CA236503012
dbSNP
gnomAD v3
gnomAD v4
12
g.47840998T>C
CA236503015
dbSNP
12
g.47840998T=
CA2034378345
12
g.47841002C=
CA2034378346
12
g.47841002C>G
CA236503018
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.47841003C=
CA2034378347
12
g.47841003C>G
CA2034378348
dbSNP
12
g.47841005A=
CA2034378349
12
g.47841005A>C
CA604847419
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.47841010T>C
CA2034378351
dbSNP
12
g.47841010T=
CA2034378350
12
g.47841014A=
CA2034378352
12
g.47841014A>G
CA236503022
dbSNP
gnomAD v3
gnomAD v4
12
g.47841015C>A
CA2034378354
dbSNP
12
g.47841015C=
CA2034378353
12
g.47841015C>T
CA689457788
dbSNP
gnomAD v3
gnomAD v4
12
g.47841016C=
CA2034378355
12
g.47841016C>G
CA2034378356
dbSNP
12
g.47841018_47841019del
CA2499793651
dbSNP
gnomAD v3
gnomAD v4
12
g.47841021A=
CA2034378357
12
g.47841021A>G
CA236503028
dbSNP
gnomAD v3
gnomAD v4
12
g.47841022del
CA2564622706
gnomAD v3
gnomAD v4
12
g.47841023C=
CA2034378358
12
g.47841023C>T
CA689457797
dbSNP
12
g.47841024A>T
CA2514525126
dbSNP
gnomAD v3
gnomAD v4
12
g.47841026_47841028del
CA2524764350
gnomAD v3
gnomAD v4
12
g.47841028A=
CA2034378359
12
g.47841028A>T
CA236503036
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.47841030C>A
CA604847423
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.47841030C=
CA2034378360
12
g.47841032C=
CA2034378361
12
g.47841032C>T
CA689457805
dbSNP
12
g.47841034C=
CA2034378362
12
g.47841034C>T
CA236503041
dbSNP
gnomAD v3
gnomAD v4
12
g.47841035T>C
CA236503054
dbSNP
gnomAD v3
gnomAD v4
12
g.47841035T=
CA2034378363
12
g.47841037C>A
CA689457808
dbSNP
gnomAD v3
gnomAD v4
12
g.47841037C=
CA2034378364
12
g.47841039T>C
CA2034378366
dbSNP
12
g.47841039T>G
CA2034378367
dbSNP
12
g.47841039T=
CA2034378365
12
g.47841047C>A
CA236503060
dbSNP
12
g.47841047C=
CA2034378368
12
g.47841047C>T
CA947335212
dbSNP
gnomAD v3
gnomAD v4
12
g.47841051A>G
CA2726269379
dbSNP
12
g.47841052T>C
CA2034378370
dbSNP
12
g.47841052T=
CA2034378369
Number of alleles fetched
Previous
Next