Allele Registry

Canonical Allele Identifier: PA2825584455

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000002526

ClinVar Variation:

2424

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116105.2:p.Gly982Asp	CA115537 NM_001122633.3:c.2945G>A