Allele Registry

Canonical Allele Identifier: PA2828315498

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000552829

RCV002298663

ClinVar Variation:

477851

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356186.1:p.Arg803Cys	CA2086634 NM_001369257.1:c.2407C>T