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.
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000514988.1:p.Leu342del |
CA390305984
ENST00000700437.1:c.1016T>A
CA390305985
ENST00000700437.1:c.1016T>G
CA390305991
ENST00000700437.1:c.1019T>A
CA390305993
ENST00000700437.1:c.1019T>G
|