Canonical Allele Identifier: PA2828315384
Gene: CPS1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356186.1:p.Arg638Pro
CA312394
NM_001369257.1:c.1913G>C