×
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.6342424A=
CA1630855474
12
g.6342424A>C
CA15724144
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.6342424A>G
CA690835390
dbSNP
12
g.6342424A>T
CA690835393
dbSNP
gnomAD v3
gnomAD v4
12
g.6342428_6342431del
CA2794415214
12
g.6342426T>A
CA2794415215
12
g.6342427G>A
CA232336482
dbSNP
12
g.6342427G>C
CA2725272281
dbSNP
12
g.6342427G=
CA2014030183
12
g.6342428T>A
CA2794415216
12
g.6342428T>C
CA232336485
dbSNP
gnomAD v3
gnomAD v4
12
g.6342428T=
CA2014030184
12
g.6342429C>A
CA2551997724
12
g.6342430T>A
CA2794415217
12
g.6342431G>C
CA2014030186
dbSNP
12
g.6342431G=
CA2014030185
12
g.6342432G>C
CA2014030189
dbSNP
12
g.6342432G=
CA2014030187
12
g.6342432G>T
CA2014030188
dbSNP
12
g.6342432_6342433insTTCAGTT
CA2794415218
12
g.6342435C>A
CA2501924411
12
g.6342438T>C
CA232336490
dbSNP
12
g.6342438T=
CA2014030190
12
g.6342448T>A
CA2794415219
12
g.6342449G=
CA2014030191
12
g.6342449G>T
CA232336511
dbSNP
gnomAD v3
gnomAD v4
12
g.6342451_6342452delinsAG
CA2014030192
12
g.6342452del
CA2014030193
dbSNP
12
g.6342453_6342454insT
CA2794415220
12
g.6342457G>A
CA2014030195
dbSNP
12
g.6342457G=
CA2014030194
12
g.6342459G>C
CA690835399
dbSNP
gnomAD v3
gnomAD v4
12
g.6342459G=
CA2014030196
12
g.6342462A>G
CA2524273073
12
g.6342469C=
CA2014030197
12
g.6342469C>T
CA2014030198
dbSNP
12
g.6342471C=
CA2014030199
12
g.6342471C>T
CA603110338
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.6342476G>A
CA603110339
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.6342476G=
CA2014030200
12
g.6342480C>T
CA2725532200
dbSNP
12
g.6342483G>A
CA232336516
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.6342483G=
CA2014030201
12
g.6342489A=
CA2014030202
12
g.6342489A>G
CA690835414
dbSNP
12
g.6342493G>C
CA603110340
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.6342493G=
CA2014030203
12
g.6342493G>T
CA2014030204
dbSNP
12
g.6342494T>C
CA2014030206
dbSNP
12
g.6342494T=
CA2014030205
Number of alleles fetched
Previous
Next