Allele Registry

Canonical Allele Identifier: PA2825584006

Gene: CPS1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

265568

265712

1003623

ClinVar RCV:

RCV000271134

RCV000275942

RCV000396067

RCV001324372

ClinVar Variation:

281331

281475

1024215

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116105.2:p.Thr344Ser	CA2086224 NM_001122633.3:c.1030A>T CA10603891 NM_001122633.3:c.1030_1032delinsTCT CA350430574 NM_001122633.3:c.1031C>G