Allele Registry

Canonical Allele Identifier: PA2829351694

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV002585136

ClinVar Variation:

2174307

HGVS (amino-acid)	Matching Registered Transcripts
NP_001866.2:p.Arg638Gln	CA2086499 NM_001875.5:c.1913G>A