Allele Registry

Canonical Allele Identifier: PA916047560

Gene: CPS1 HGNC NCBI

ClinVar Allele:

199987

ClinVar RCV:

RCV000667001

RCV002271449

RCV003243005

ClinVar Variation:

203651

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Met67Arg	CA312400 NM_001369256.1:c.200T>G