Allele Registry

Canonical Allele Identifier: PA2828315438

Gene: CPS1 HGNC NCBI

ClinVar Allele:

264072

ClinVar RCV:

RCV000344019

RCV000667844

RCV003409396

RCV003469214

ClinVar Variation:

280052

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356186.1:p.Asn716Lys	CA2086555 NM_001369257.1:c.2148T>A CA350439146 NM_001369257.1:c.2148T>G