ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA103164
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000083551
ClinVar Variation:
97305
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Thr242Ile
CA224763
NM_000531.6:c.725C>T