Allele Registry

Canonical Allele Identifier: PA099910

Gene: CPS1 HGNC NCBI

ClinVar Allele:

17458

ClinVar RCV:

RCV000002520

RCV003466784

ClinVar Variation:

2419

HGVS (amino-acid)	Matching Registered Transcripts
NP_001866.2:p.Thr544Met	CA115525 NM_001875.5:c.1631C>T