Allele Registry

Canonical Allele Identifier: PA099474

Gene: CPS1 HGNC NCBI

ClinVar Allele:

17463

ClinVar RCV:

RCV000002526

ClinVar Variation:

2424

HGVS (amino-acid)	Matching Registered Transcripts
NP_001866.2:p.Gly982Asp	CA115537 NM_001875.5:c.2945G>A