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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
MT
m.5774_14768del
CA2580610836
MT
m.5780_14107del
CA2580610932
MT
m.5782_13922del
CA250413
ClinVar
MT
m.5788_13923del
CA2580618295
MT
m.5794_14876del
CA250414
ClinVar
MT
m.5801T>A
CA913180504
dbSNP
MT
m.5801T>C
CA658475731
COSMIC
COSMIC
COSMIC
COSMIC
COSMIC
COSMIC
COSMIC
COSMIC
COSMIC
COSMIC
MT
m.5801T>G
CA913180505
MT
m.5801T=
CA2573322264
MT
m.5802T>A
CA913180506
MT
m.5802T>C
CA913180507
ClinVar
dbSNP
MT
m.5802T>G
CA913180508
MT
m.5802T=
CA2499564575
MT
m.5803C>A
CA913180512
MT
m.5803C=
CA2573322269
MT
m.5803C>G
CA913180509
MT
m.5803C>T
CA913180510
MT
m.5804A=
CA2499564576
MT
m.5804A>C
CA913180515
MT
m.5804A>G
CA913180514
ClinVar
dbSNP
MT
m.5804A>T
CA913180513
MT
m.5805del
CA2573104505
MT
m.5805A=
CA2573322278
MT
m.5805A>C
CA913180516
MT
m.5805A>G
CA913180518
ClinVar
dbSNP
MT
m.5805A>T
CA913180517
MT
m.5807_5808del
CA2573104506
MT
m.5806T>A
CA913180520
MT
m.5806T>C
CA337097240
ClinVar
dbSNP
MT
m.5806T>G
CA913180519
MT
m.5806T=
CA2499564577
MT
m.5807A=
CA2499564578
MT
m.5807A>C
CA337097245
MT
m.5807A>G
CA337097243
ClinVar
dbSNP
MT
m.5807A>T
CA337097247
MT
m.5808T>A
CA913180521
MT
m.5808T>C
CA913180522
MT
m.5808T>G
CA913180523
MT
m.5808T=
CA2573322292
MT
m.5809G>A
CA913180524
ClinVar
dbSNP
MT
m.5809G>C
CA913180525
MT
m.5809G=
CA2499564579
MT
m.5809G>T
CA913180526
MT
m.5810A=
CA2573322302
MT
m.5810A>C
CA913180527
MT
m.5810A>G
CA913180529
MT
m.5810A>T
CA913180528
MT
m.5813dup
CA2573104507
MT
m.5813del
CA2573104508
MT
m.5811A=
CA2499564580
Number of alleles fetched
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