Allele Registry

Canonical Allele Identifier: PA916047648

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000666361

RCV001756125

ClinVar Variation:

551329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Arg1100Cys	CA350436193 NM_001369256.1:c.3298C>T