×
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
14
g.54912158G=
CA2138244300
14
g.54912160_54912163dup
CA919422550
dbSNP
14
g.54912160T>C
CA2508667239
14
g.54912162_54912163insTG
CA2563478483
14
g.54912163C=
CA2138244303
14
g.54912163C>T
CA963342830
dbSNP
gnomAD v3
gnomAD v4
14
g.54912165_54912166insTCAGCAG
CA2505605473
14
g.54912166A>G
CA2499957099
14
g.54912167C>A
CA963342832
gnomAD v3
gnomAD v4
14
g.54912169T>C
CA14030754
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912169T=
CA2138244305
14
g.54912170G>A
CA2801652305
14
g.54912177A=
CA2138244307
14
g.54912177A>C
CA963342837
dbSNP
gnomAD v3
gnomAD v4
14
g.54912184A=
CA2138244308
14
g.54912184A>G
CA2138244309
dbSNP
14
g.54912192G=
CA2138244311
14
g.54912192G>T
CA963342838
dbSNP
gnomAD v3
gnomAD v4
14
g.54912194T>G
CA2801652306
14
g.54912197G>A
CA260533869
dbSNP
gnomAD v3
gnomAD v4
14
g.54912197G=
CA2138244313
14
g.54912204C>A
CA706944149
dbSNP
gnomAD v3
gnomAD v4
14
g.54912204C=
CA2138244320
14
g.54912204C>G
CA2138244322
dbSNP
14
g.54912204C>T
CA2729571728
dbSNP
14
g.54912205A=
CA2138244323
14
g.54912205A>G
CA260533871
dbSNP
14
g.54912213T>G
CA2593414807
dbSNP
gnomAD v3
gnomAD v4
14
g.54912213_54912216delinsTAGA
CA2138244326
14
g.54912217_54912219del
CA963342844
dbSNP
gnomAD v3
gnomAD v4
14
g.54912217A=
CA2138244329
14
g.54912217A>C
CA260533873
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912218G>A
CA2138244332
dbSNP
14
g.54912218G=
CA2138244331
14
g.54912229C=
CA2138244334
14
g.54912229C>T
CA260533875
dbSNP
gnomAD v3
gnomAD v4
14
g.54912230C>A
CA2138244335
dbSNP
14
g.54912230C=
CA2138244336
14
g.54912233C>A
CA2138244338
dbSNP
14
g.54912233C=
CA2138244337
14
g.54912237A=
CA2138244339
14
g.54912237A>G
CA260533877
dbSNP
gnomAD v3
gnomAD v4
14
g.54912238A=
CA2138244340
14
g.54912238A>T
CA2138244341
dbSNP
14
g.54912245C=
CA2138244342
14
g.54912245C>T
CA260533879
dbSNP
gnomAD v3
gnomAD v4
14
g.54912248A=
CA2138244343
14
g.54912248A>G
CA706944161
dbSNP
14
g.54912253G>A
CA260533881
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912253G=
CA2138244344
Number of alleles fetched
Previous
Next