Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116105.1:p.Thr387Ser	CA350430907 NM_001122633.2:c.1159A>T CA350430915 NM_001122633.2:c.1160C>G