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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
7
g.129061194T>A
CA1742624213
dbSNP
7
g.129061194T>C
CA1742624214
dbSNP
7
g.129061194T=
CA1742624212
7
g.129061198C>T
CA2715978981
dbSNP
7
g.129061200T>G
CA2504871980
7
g.129061203T>C
CA166233089
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129061203T=
CA1742624218
7
g.129061204dup
CA833166974
dbSNP
gnomAD v3
gnomAD v4
7
g.129061207A=
CA1742624222
7
g.129061207A>G
CA166233091
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129061209G=
CA1742624226
7
g.129061209G>T
CA577728992
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129061212A=
CA1742624238
7
g.129061212A>T
CA577728995
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129061213C>T
CA2715979022
dbSNP
7
g.129061214A>T
CA2715979032
dbSNP
7
g.129061218C=
CA1742624246
7
g.129061218C>T
CA166233094
dbSNP
gnomAD v3
gnomAD v4
7
g.129061222T>C
CA2715979073
dbSNP
7
g.129061223G>A
CA166233096
dbSNP
7
g.129061223G=
CA1742624249
7
g.129061226T>G
CA577728996
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129061226T=
CA1742624256
7
g.129061233T>C
CA1742624261
dbSNP
7
g.129061233T=
CA1742624260
7
g.129061235_129061247delinsTACCTTATACCTC
CA1742624264
7
g.129061237_129061248del
CA1742624266
dbSNP
7
g.129061239T>C
CA1742624278
dbSNP
7
g.129061239T=
CA1742624267
7
g.129061241A=
CA1742624279
7
g.129061241A>G
CA1742624280
dbSNP
7
g.129061245C=
CA1742624281
7
g.129061245C>T
CA1742624283
dbSNP
7
g.129061248A=
CA1742624287
7
g.129061248A>T
CA1742624290
dbSNP
7
g.129061252G=
CA1742624295
7
g.129061252G>T
CA166233099
dbSNP
gnomAD v3
gnomAD v4
7
g.129061254C=
CA1742624298
7
g.129061254C>G
CA1742624301
dbSNP
7
g.129061254C>T
CA1742624303
dbSNP
7
g.129061259A=
CA1742624307
7
g.129061259A>G
CA166233101
dbSNP
gnomAD v3
gnomAD v4
7
g.129061265T>A
CA1742624314
dbSNP
7
g.129061265T=
CA1742624313
7
g.129061266C>A
CA166233104
dbSNP
7
g.129061266C=
CA1742624321
7
g.129061272G>C
CA833166998
dbSNP
7
g.129061272G=
CA1742624325
7
g.129061274C=
CA1742624327
7
g.129061274C>T
CA1742624329
dbSNP
Number of alleles fetched
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