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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
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.40990556T>A
CA2336249205
dbSNP
19
g.40990556T>C
CA14661463
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
19
g.40990556T>G
CA2336249206
dbSNP
19
g.40990556T=
CA2336249204
19
g.40990559A=
CA2336249208
19
g.40990559A>G
CA2336249207
dbSNP
19
g.40990563T>C
CA995939351
dbSNP
gnomAD v3
gnomAD v4
19
g.40990563T=
CA2336249209
19
g.40990565G>A
CA882297953
dbSNP
gnomAD v3
gnomAD v4
19
g.40990565G=
CA2336249210
19
g.40990565G>T
CA995939353
dbSNP
gnomAD v3
gnomAD v4
19
g.40990567G>A
CA995939359
dbSNP
gnomAD v3
gnomAD v4
19
g.40990567G>C
CA2814422243
19
g.40990567G=
CA2336249211
19
g.40990573A=
CA2336249213
19
g.40990573A>G
CA2336249214
dbSNP
19
g.40990573_40990574delinsAG
CA2336249212
19
g.40990574del
CA308490500
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
19
g.40990574G>C
CA882297954
dbSNP
19
g.40990574G=
CA2336249215
19
g.40990575T>C
CA995939362
dbSNP
gnomAD v3
gnomAD v4
19
g.40990575T=
CA2336249216
19
g.40990577C=
CA2336249217
19
g.40990577C>G
CA882297956
dbSNP
gnomAD v3
gnomAD v4
19
g.40990578A>G
CA2736048641
dbSNP
19
g.40990579G>A
CA2499585217
19
g.40990581T>C
CA882297957
dbSNP
gnomAD v3
gnomAD v4
19
g.40990581T>G
CA2566686561
19
g.40990581T=
CA2336249219
19
g.40990581_40990582delinsTG
CA2336249218
19
g.40990582G>A
CA2336249221
dbSNP
19
g.40990582G=
CA2336249220
19
g.40990585del
CA995939368
dbSNP
gnomAD v3
gnomAD v4
19
g.40990584G>A
CA2336249223
dbSNP
19
g.40990584G=
CA2336249222
19
g.40990584G>T
CA2511749564
19
g.40990589T>C
CA995939369
gnomAD v3
gnomAD v4
19
g.40990590G>A
CA995939370
dbSNP
gnomAD v3
gnomAD v4
19
g.40990590G=
CA2336249224
19
g.40990591C=
CA2336249225
19
g.40990591C>T
CA995939371
dbSNP
gnomAD v3
gnomAD v4
19
g.40990592C=
CA2336249226
19
g.40990592C>T
CA308490514
dbSNP
19
g.40990594T>C
CA882297958
dbSNP
19
g.40990594T=
CA2336249227
19
g.40990597G>A
CA882297959
dbSNP
gnomAD v3
gnomAD v4
19
g.40990597G=
CA2336249228
19
g.40990597G>T
CA995939373
gnomAD v3
gnomAD v4
19
g.40990603G>C
CA2336249230
dbSNP
19
g.40990603G=
CA2336249229
Number of alleles fetched
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