Allele Registry

Canonical Allele Identifier: PA2825583815

Gene: CPS1 HGNC NCBI

ClinVar Allele:

199987

ClinVar RCV:

RCV000667001

RCV002271449

RCV003243005

ClinVar Variation:

203651

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116105.2:p.Met56Arg	CA312400 NM_001122633.3:c.167T>G