Allele Registry

Canonical Allele Identifier: PA916047668

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000116832

RCV000274786

RCV003334452

RCV003334453

ClinVar Variation:

128852

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Thr1417Asn	CA288789 NM_001369256.1:c.4250C>A