Allele Registry

Canonical Allele Identifier: PA2828315653

Gene: CPS1 HGNC NCBI

ClinVar Allele:

172198

ClinVar RCV:

RCV000149915

ClinVar Variation:

162525

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356186.1:p.Val1013del	CA175109 NM_001369257.1:c.3037_3039del