×
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
6
g.383356_383430dup
CA565010928
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.383412T>C
CA133321787
dbSNP
gnomAD v3
gnomAD v4
6
g.383412T=
CA1605229309
6
g.383415C=
CA1605229310
6
g.383415C>T
CA1605229311
dbSNP
6
g.383418A=
CA1605229312
6
g.383418A>C
CA1605229313
dbSNP
6
g.383420T>C
CA1605229314
dbSNP
gnomAD v3
gnomAD v4
6
g.383420T=
CA1605229315
6
g.383421G>C
CA824420297
dbSNP
gnomAD v3
gnomAD v4
6
g.383421G=
CA1605229316
6
g.383423A=
CA1605229317
6
g.383423A>G
CA824420298
dbSNP
6
g.383433C=
CA1605229318
6
g.383433C>G
CA1085191951
dbSNP
gnomAD v3
gnomAD v4
6
g.383440G>C
CA824420305
dbSNP
6
g.383440G=
CA1605229319
6
g.383445G>A
CA1605229321
dbSNP
6
g.383445G=
CA1605229320
6
g.383451T>C
CA133321790
dbSNP
6
g.383451T=
CA1605229322
6
g.383457C=
CA1605229323
6
g.383457C>T
CA133321803
dbSNP
gnomAD v3
gnomAD v4
6
g.383458G>A
CA133321826
dbSNP
gnomAD v3
gnomAD v4
6
g.383458G>C
CA133321835
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.383458G=
CA1605229324
6
g.383460T>C
CA1605229326
dbSNP
6
g.383460T=
CA1605229325
6
g.383464G>A
CA133321849
dbSNP
gnomAD v3
gnomAD v4
6
g.383464G=
CA1605229327
6
g.383466A=
CA1605229328
6
g.383466A>C
CA133321859
dbSNP
6
g.383468C=
CA1605229329
6
g.383468C>T
CA133321875
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.383469G>A
CA133321888
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.383469G=
CA1605229330
6
g.383477T>C
CA1085191955
dbSNP
gnomAD v3
gnomAD v4
6
g.383477T=
CA1605229331
6
g.383480A=
CA1605229332
6
g.383480A>G
CA824420315
dbSNP
gnomAD v3
gnomAD v4
6
g.383481C=
CA1605229334
6
g.383481C>G
CA565010952
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.383481C>T
CA1605229333
dbSNP
6
g.383482T>G
CA133321897
dbSNP
gnomAD v3
gnomAD v4
6
g.383482T=
CA1605229335
6
g.383494del
CA2769718372
6
g.383496G>C
CA133321898
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.383496G=
CA1605229336
6
g.383497G>C
CA565010956
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.383497G=
CA1605229337
Number of alleles fetched
Previous
Next