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 |
|---|---|
| ENSP00000425104.1:p.Cys44Arg |
CA16602999
ENST00000509690.5:c.130T>C
CA913191047
ENST00000509690.5:c.130_132delinsCGG
|