Canonical Allele Identifier: PA916047578
Gene: CPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2421
ClinVar RCV Id: RCV000002522

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356185.1:p.His348Arg
CA115530
NM_001369256.1:c.1043A>G