Allele Registry

Canonical Allele Identifier: PA916047616

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000552829

RCV002298663

ClinVar Variation:

477851

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Arg814Cys	CA2086634 NM_001369256.1:c.2440C>T