Allele Registry

Canonical Allele Identifier: PA099008

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000414131

RCV001380980

RCV003470360

ClinVar Variation:

372747

HGVS (amino-acid)	Matching Registered Transcripts
NP_001866.2:p.Arg780His	CA2086609 NM_001875.5:c.2339G>A