Allele Registry

Canonical Allele Identifier: PA1139742426

Gene: CPS1 HGNC NCBI

ClinVar Allele:

172198

ClinVar RCV:

RCV000149915

ClinVar Variation:

162525

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Val1024del	CA175109 NM_001369256.1:c.3070_3072del