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.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
45233
ClinVar RCV Id:
RCV000038389
ClinVar Variation Id:
163343
ClinVar Variation Id:
177620
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001333827.1:p.Glu746_Ala750del |
CA135794
NM_001346898.1:c.2232_2249delinsAAA
CA175996
NM_001346898.1:c.2235_2249del
CA175997
NM_001346898.1:c.2237_2248delinsCCC
CA180531
NM_001346898.1:c.2236_2250del
CA180619
NM_001346898.1:c.2235_2248delinsAATTC
CA180653
NM_001346898.1:c.2237_2248delinsCAC
CA645561497
NM_001346898.1:c.2236_2248delinsCAAC
CA645561513
NM_001346898.1:c.2237_2250delinsTCCCT
CA645561522
NM_001346898.1:c.2238_2248delinsTC
|