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_001356186.1:p.Glu388Asp	CA350431018 NM_001369257.1:c.1164G>C CA350431020 NM_001369257.1:c.1164G>T