ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829351796
Gene: CPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1966608
ClinVar RCV Id:
RCV002745566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001866.2:p.Ile745Leu
CA350439502
NM_001875.5:c.2233A>C