Allele Registry

Canonical Allele Identifier: PA224816

Gene: OTC HGNC NCBI

ClinVar Allele:

103236

ClinVar RCV:

RCV000083592

ClinVar Variation:

97344

HGVS (amino-acid)	Matching Registered Transcripts
NP_000522.3:p.Lys289Asn	CA224815 NM_000531.6:c.867G>T CA412723984 NM_000531.6:c.867G>C