Allele Registry

Canonical Allele Identifier: PA916047606

Gene: CPS1 HGNC NCBI

ClinVar Allele:

199991

ClinVar RCV:

RCV000185818

ClinVar Variation:

203649

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Arg649Pro	CA312394 NM_001369256.1:c.1946G>C