Allele Registry

Canonical Allele Identifier: PA101448

Gene: UROD HGNC NCBI

ClinVar RCV:

RCV000240668

RCV001857846

RCV002509339

ClinVar Variation:

254172

HGVS (amino-acid)	Matching Registered Transcripts
NP_000365.3:p.Arg193Pro	CA10586360 NM_000374.5:c.578G>C