Allele Registry

Canonical Allele Identifier: PA099494

Gene: CPS1 HGNC NCBI

ClinVar Allele:

541822

ClinVar RCV:

RCV000668782

RCV002531211

ClinVar Variation:

553356

HGVS (amino-acid)	Matching Registered Transcripts
NP_001866.2:p.Gly982Val	CA2086804 NM_001875.5:c.2945G>T