Allele Registry

Canonical Allele Identifier: PA2828315631

Gene: CPS1 HGNC NCBI

ClinVar Allele:

17463

ClinVar RCV:

RCV000002526

ClinVar Variation:

2424

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356186.1:p.Gly982Asp	CA115537 NM_001369257.1:c.2945G>A