Allele Registry

Canonical Allele Identifier: PA916047613

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000414131

RCV001380980

RCV003470360

ClinVar Variation:

372747

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Arg791His	CA2086609 NM_001369256.1:c.2372G>A