×
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.48095753G>A
CA14060799
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.48095753G=
CA2135058146
14
g.48095755A=
CA2135058147
14
g.48095755A>T
CA261065691
dbSNP
gnomAD v3
gnomAD v4
14
g.48095756T>G
CA2592553222
gnomAD v3
gnomAD v4
14
g.48095763C>A
CA2801481331
14
g.48095765T>C
CA2571044470
14
g.48095765T=
CA2135058148
14
g.48095766dup
CA261065692
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.48095768A=
CA2135058149
14
g.48095768A>G
CA261065693
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.48095768A>T
CA614105849
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.48095769G>C
CA2135058151
dbSNP
14
g.48095769G=
CA2135058150
14
g.48095770C>A
CA2135058153
dbSNP
14
g.48095770C=
CA2135058152
14
g.48095775T>C
CA261065694
dbSNP
14
g.48095775T=
CA2135058154
14
g.48095777A=
CA2135058155
14
g.48095777A>C
CA614105850
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.48095778C=
CA2135058156
14
g.48095778C>G
CA261065695
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.48095779A=
CA2135058157
14
g.48095779A>G
CA2135058158
dbSNP
14
g.48095781G>A
CA261065696
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.48095781G=
CA2135058159
14
g.48095785T>G
CA261065697
dbSNP
gnomAD v3
gnomAD v4
14
g.48095785T=
CA2135058160
14
g.48095787A=
CA2135058161
14
g.48095787A>G
CA261065698
dbSNP
gnomAD v3
gnomAD v4
14
g.48095789G>A
CA706336796
dbSNP
14
g.48095789G=
CA2135058162
14
g.48095790G=
CA2135058163
14
g.48095790G>T
CA261065699
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.48095792A=
CA2135058165
14
g.48095792A>G
CA2135058164
dbSNP
14
g.48095796T>G
CA2741374889
14
g.48095799C=
CA2135058166
14
g.48095799C>T
CA962867842
dbSNP
gnomAD v3
gnomAD v4
14
g.48095800A=
CA2135058167
14
g.48095800A>C
CA2135058168
dbSNP
14
g.48095805T>C
CA706336799
dbSNP
gnomAD v3
gnomAD v4
14
g.48095805T=
CA2135058169
14
g.48095806G=
CA2135058170
14
g.48095806G>T
CA2135058171
dbSNP
14
g.48095814G=
CA2135058172
14
g.48095815dup
CA706336800
dbSNP
gnomAD v3
gnomAD v4
14
g.48095816C=
CA2135058173
14
g.48095816C>T
CA261065700
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.48095817G>A
CA261065701
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next