Allele Registry

Canonical Allele Identifier: PA2828315384

Gene: CPS1 HGNC NCBI

ClinVar Allele:

199991

ClinVar RCV:

RCV000185818

ClinVar Variation:

203649

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356186.1:p.Arg638Pro	CA312394 NM_001369257.1:c.1913G>C