Allele Registry

Canonical Allele Identifier: PA645417244

Gene: IDUA HGNC NCBI

ClinVar RCV:

RCV000211578

RCV003129812

RCV003591715

ClinVar Variation:

226412

HGVS (amino-acid)	Matching Registered Transcripts
NP_000194.2:p.Trp175Arg	CA10576337 NM_000203.5:c.523T>C CA355961687 NM_000203.5:c.523T>A