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.Glu394Asp	CA350431018 NM_001122633.2:c.1182G>C CA350431020 NM_001122633.2:c.1182G>T