Allele Registry

Canonical Allele Identifier: PA916047617

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000813104

RCV002495136

RCV003467464

ClinVar Variation:

656636

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Arg814Gly	CA2086633 NM_001369256.1:c.2440C>G