Allele Registry

Canonical Allele Identifier: PA2825584529

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000666361

RCV001756125

ClinVar Variation:

551329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116105.2:p.Arg1089Cys	CA350436193 NM_001122633.3:c.3265C>T