Allele Registry

Canonical Allele Identifier: PA2829351119

Gene: CPS1 HGNC NCBI

ClinVar Allele:

691022

ClinVar RCV:

RCV000877370

ClinVar Variation:

706679

HGVS (amino-acid)	Matching Registered Transcripts
NP_001866.2:p.Gly163Arg	CA2086045 NM_001875.5:c.487G>A CA350425685 NM_001875.5:c.487G>C