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
Gene: CPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116105.1:p.Thr350Ser
CA2086224
NM_001122633.2:c.1048A>T
CA10603891
NM_001122633.2:c.1048_1050delinsTCT
CA350430574
NM_001122633.2:c.1049C>G