Allele Registry

Canonical Allele Identifier: PA2828315171

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000002522

ClinVar Variation:

2421

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356186.1:p.His337Arg	CA115530 NM_001369257.1:c.1010A>G