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_001866.2:p.Lys757Asn	CA350439581 NM_001875.5:c.2271G>T CA350439582 NM_001875.5:c.2271G>C