Canonical Allele Identifier: PA2825584287
Gene: CPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2293439
ClinVar RCV Id: RCV002854792

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116105.2:p.Pro748Ala
CA350439520
NM_001122633.3:c.2242C>G