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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
Y
g.17002845T>C
CA2551297385
Y
g.17002867G>T
CA2522483887
Y
g.17002869G>T
CA2524970855
Y
g.17002870A>T
CA1139467004
gnomAD v3
gnomAD v4
Y
g.17002873A=
CA2470818274
Y
g.17002874_17002875insTCCCT
CA1139467006
dbSNP
gnomAD v3
gnomAD v4
Y
g.17002884A>G
CA2564809546
Y
g.17002888C=
CA2470818275
Y
g.17002888C>T
CA2470818276
dbSNP
Y
g.17002894C>A
CA2558325352
Y
g.17002900A=
CA2470818277
Y
g.17002900A>C
CA337272723
dbSNP
gnomAD v3
gnomAD v4
Y
g.17002906C>G
CA2571590882
Y
g.17002906C>T
CA2543141911
Y
g.17002910C>T
CA2506025705
Y
g.17002915G>C
CA1139467012
gnomAD v3
gnomAD v4
Y
g.17002918C=
CA2470818278
Y
g.17002918C>T
CA2470818279
dbSNP
Y
g.17002922_17002925delinsCATT
CA2470818280
Y
g.17002925_17002927del
CA1139467013
dbSNP
gnomAD v3
gnomAD v4
Y
g.17002924T>C
CA1139467014
gnomAD v3
gnomAD v4
Y
g.17002931A=
CA2470818281
Y
g.17002931A>G
CA337272727
dbSNP
gnomAD v3
gnomAD v4
Y
g.17002934C=
CA2470818282
Y
g.17002934C>G
CA658587739
COSMIC
Y
g.17002934C>T
CA1139467021
dbSNP
gnomAD v3
gnomAD v4
Y
g.17002937T>C
CA2506945127
dbSNP
gnomAD v3
gnomAD v4
Y
g.17002941T>A
CA2470818284
dbSNP
Y
g.17002941T>C
CA1139467039
gnomAD v3
gnomAD v4
Y
g.17002941T=
CA2470818283
Y
g.17002943T>A
CA337272729
dbSNP
gnomAD v3
gnomAD v4
Y
g.17002943T=
CA2470818285
Number of alleles fetched
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