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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
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.40990460T>G
CA2814422231
19
g.40990461T>A
CA2336249143
dbSNP
19
g.40990461T=
CA2336249142
19
g.40990462G>A
CA2336249145
dbSNP
19
g.40990462G>C
CA914327122
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
19
g.40990462G=
CA2336249144
19
g.40990463G>A
CA2814422232
19
g.40990466C=
CA2336249146
19
g.40990466C>T
CA308490423
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
19
g.40990467A=
CA2336249147
19
g.40990467A>G
CA2336249148
dbSNP
19
g.40990468C>T
CA2814422234
19
g.40990470G>A
CA2336249150
dbSNP
19
g.40990470G=
CA2336249149
19
g.40990471C>A
CA995939315
dbSNP
gnomAD v3
gnomAD v4
19
g.40990471C=
CA2336249151
19
g.40990471C>T
CA2336249152
dbSNP
19
g.40990473G>A
CA2336249154
dbSNP
19
g.40990473G=
CA2336249153
19
g.40990474C>T
CA2582162013
dbSNP
gnomAD v3
gnomAD v4
19
g.40990478C=
CA2336249155
19
g.40990478C>G
CA2814422236
19
g.40990478C>T
CA2336249156
dbSNP
19
g.40990479A=
CA2336249157
19
g.40990479A>G
CA882297925
dbSNP
19
g.40990480C=
CA2336249158
19
g.40990480C>T
CA633159009
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
19
g.40990482T>G
CA657314790
COSMIC
19
g.40990483C=
CA2336249159
19
g.40990483C>G
CA2336249160
dbSNP
19
g.40990483C>T
CA308490424
dbSNP
gnomAD v3
gnomAD v4
19
g.40990485C>T
CA2523901507
19
g.40990486A>G
CA2814422237
19
g.40990488G>A
CA882297928
dbSNP
gnomAD v3
gnomAD v4
19
g.40990488G=
CA2336249161
19
g.40990488G>T
CA995939317
dbSNP
gnomAD v3
gnomAD v4
19
g.40990490T>C
CA2538315548
19
g.40990493A=
CA2336249162
19
g.40990493A>G
CA633159010
dbSNP
gnomAD v2
19
g.40990494G>A
CA308490426
dbSNP
gnomAD v3
19
g.40990494G=
CA2336249163
19
g.40990495T>A
CA995939323
dbSNP
gnomAD v3
gnomAD v4
19
g.40990495T>C
CA2336249165
dbSNP
19
g.40990495T=
CA2336249164
19
g.40990500C>A
CA2814422239
19
g.40990500C=
CA2336249166
19
g.40990500C>T
CA995939324
dbSNP
gnomAD v3
gnomAD v4
19
g.40990502C>A
CA308490428
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
19
g.40990502C=
CA2336249167
19
g.40990503T>C
CA2336249169
dbSNP
Number of alleles fetched
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