Allele Registry

Canonical Allele Identifier: PA1139670572

Gene: OTC HGNC NCBI

ClinVar RCV:

RCV001249000

RCV001511499

RCV002447234

ClinVar Variation:

972786

HGVS (amino-acid)	Matching Registered Transcripts
NP_000522.3:p.Gln29Glu	CA10385786 NM_000531.6:c.85C>G