Allele Registry

Canonical Allele Identifier: PA2828315182

Gene: CPS1 HGNC NCBI

ClinVar RCV:

RCV000271134

RCV000275942

RCV000396067

RCV001324372

ClinVar Variation:

281331

281475

1024215

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356186.1:p.Thr344Ser	CA2086224 NM_001369257.1:c.1030A>T CA10603891 NM_001369257.1:c.1030_1032delinsTCT CA350430574 NM_001369257.1:c.1031C>G