ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA102689
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000083404
ClinVar Variation:
97171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.His117Arg
CA224559
NM_000531.6:c.350A>G