Allele Registry

Canonical Allele Identifier: PA2828315500

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000185819

ClinVar Variation:

203650

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356186.1:p.Arg803Ser	CA312397 NM_001369257.1:c.2407C>A