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_001116106.1:p.Lys306Asn	CA350439581 NM_001122634.3:c.918G>T CA350439582 NM_001122634.3:c.918G>C