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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
Y
g.12078290T=
CA2470514512
Y
g.12078292dup
CA337707802
dbSNP
Y
g.12078294A=
CA2470514513
Y
g.12078294A>T
CA1139190652
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078297G>A
CA2824875455
Y
g.12078301G=
CA2470514514
Y
g.12078301G>T
CA2470514515
dbSNP
Y
g.12078306del
CA2507809342
Y
g.12078311G>A
CA337707803
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078311G=
CA2470514516
Y
g.12078313A>G
CA1139190655
gnomAD v3
gnomAD v4
Y
g.12078319A>T
CA2589294220
gnomAD v3
gnomAD v4
Y
g.12078325G>A
CA1139190657
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078325G=
CA2470514517
Y
g.12078328T>C
CA2516724294
Y
g.12078331A=
CA2470514518
Y
g.12078331A>G
CA337707804
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078353T>C
CA2573048173
Y
g.12078355T>C
CA2824875456
Y
g.12078359T>C
CA2824875457
Y
g.12078359T>G
CA1139190660
gnomAD v3
gnomAD v4
Y
g.12078368_12078369insG
CA2561098688
Y
g.12078369_12078370insGTGTATGTATG
CA2544382804
Y
g.12078374A>T
CA2547827680
Y
g.12078381A=
CA2470514519
Y
g.12078381A>G
CA1139190661
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078383G>A
CA1139190662
gnomAD v3
gnomAD v4
Number of alleles fetched
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