Allele Registry

Canonical Allele Identifier: PA916047599

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000874425

RCV003917701

ClinVar Variation:

203648

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Thr555Ser	CA312390 NM_001369256.1:c.1663A>T