×
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
17
g.47747982T>C
CA984269800
dbSNP
gnomAD v3
gnomAD v4
17
g.47747982T=
CA2262812212
17
g.47747985C>A
CA626402465
dbSNP
gnomAD v2
17
g.47747985C=
CA2262812213
17
g.47747985C>T
CA2262812214
dbSNP
17
g.47747987G>A
CA2551534283
17
g.47747988G>A
CA2262812216
dbSNP
17
g.47747988G=
CA2262812215
17
g.47747988G>T
CA291274667
dbSNP
17
g.47747990del
CA2809699669
17
g.47747999C=
CA2262812217
17
g.47747999C>T
CA291274668
dbSNP
gnomAD v3
gnomAD v4
17
g.47748000A>G
CA626402466
gnomAD v2
17
g.47748003del
CA2569710003
17
g.47748005G>A
CA2262812219
dbSNP
17
g.47748005G=
CA2262812218
17
g.47748005G>T
CA2508208293
17
g.47748006C=
CA2262812220
17
g.47748006C>T
CA626402468
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
17
g.47748009T>C
CA291274671
dbSNP
gnomAD v3
gnomAD v4
17
g.47748009T=
CA2262812221
17
g.47748013A=
CA2262812222
17
g.47748013A>C
CA772592931
dbSNP
gnomAD v3
gnomAD v4
17
g.47748013A>G
CA291274674
dbSNP
17
g.47748018A=
CA2262812223
17
g.47748018A>G
CA16540125
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
17
g.47748019G>A
CA2809699670
17
g.47748020A=
CA2262812224
17
g.47748020A>G
CA2262812225
dbSNP
17
g.47748022T>A
CA2262812227
dbSNP
17
g.47748022T=
CA2262812226
17
g.47748023A=
CA2262812228
17
g.47748023A>T
CA291274681
dbSNP
gnomAD v3
gnomAD v4
17
g.47748024T>G
CA2809699671
17
g.47748031C>A
CA2262812230
dbSNP
17
g.47748031C=
CA2262812229
17
g.47748031C>T
CA772592940
dbSNP
17
g.47748032C>G
CA2809699672
17
g.47748035A=
CA2262812231
17
g.47748035A>G
CA2262812232
dbSNP
17
g.47748035A>T
CA984269814
gnomAD v3
gnomAD v4
17
g.47748038C=
CA2262812233
17
g.47748038C>G
CA2262812234
dbSNP
17
g.47748040T>C
CA2262812236
dbSNP
17
g.47748040T=
CA2262812235
17
g.47748041A>T
CA984269815
gnomAD v3
gnomAD v4
17
g.47748042C=
CA2262812238
17
g.47748042C>G
CA2262812237
dbSNP
gnomAD v3
gnomAD v4
17
g.47748042C>T
CA984269816
dbSNP
gnomAD v3
gnomAD v4
17
g.47748045C=
CA2262812239
17
g.47748045C>T
CA2262812240
dbSNP
17
g.47748046G>A
CA291274688
dbSNP
gnomAD v3
gnomAD v4
17
g.47748046G=
CA2262812241
17
g.47748052G>A
CA2262812243
dbSNP
17
g.47748052G=
CA2262812242
17
g.47748055A=
CA2262812244
17
g.47748055A>T
CA772592943
dbSNP
gnomAD v3
gnomAD v4
17
g.47748055_47748086delinsACTTTCTAAAGTTAATGGGTTGGGTCTATTTC
CA2262812245
17
g.47748062_47748092del
CA2262812246
dbSNP
17
g.47748059T>A
CA291274690
dbSNP
17
g.47748059T=
CA2262812247
17
g.47748062A=
CA2262812248
17
g.47748062A>G
CA291274704
dbSNP
17
g.47748063A=
CA2262812249
17
g.47748063A>C
CA626402471
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
17
g.47748069A=
CA2262812250
17
g.47748069A>G
CA2262812251
dbSNP
17
g.47748071G>A
CA291274707
dbSNP
gnomAD v3
gnomAD v4
17
g.47748071G=
CA2262812252
17
g.47748072G>A
CA2262812254
dbSNP
17
g.47748072G=
CA2262812253
17
g.47748073G>A
CA2733743003
dbSNP
17
g.47748075_47748076delinsTG
CA2262812255
17
g.47748076G>A
CA291274711
dbSNP
17
g.47748076G=
CA2262812256
17
g.47748078del
CA772592947
dbSNP
gnomAD v3
gnomAD v4
17
g.47748078G=
CA2262812257
17
g.47748078G>T
CA772592948
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next