Allele Registry

Canonical Allele Identifier: PA916047618

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000185819

ClinVar Variation:

203650

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Arg814Ser	CA312397 NM_001369256.1:c.2440C>A