Allele Registry

Canonical Allele Identifier: PA2828315314

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000874425

RCV003917701

ClinVar Variation:

203648

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356186.1:p.Thr544Ser	CA312390 NM_001369257.1:c.1630A>T