Allele Registry

Canonical Allele Identifier: PA2825584453

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000668782

RCV002531211

ClinVar Variation:

553356

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116105.2:p.Gly982Val	CA2086804 NM_001122633.3:c.2945G>T