Allele Registry

Canonical Allele Identifier: PA916047578

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000002522

ClinVar Variation:

2421

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.His348Arg	CA115530 NM_001369256.1:c.1043A>G