Allele Registry

Canonical Allele Identifier: PA916047638

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000002526

ClinVar Variation:

2424

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Gly993Asp	CA115537 NM_001369256.1:c.2978G>A