Allele Registry

Canonical Allele Identifier: PA247500

Gene: IDUA HGNC NCBI

ClinVar RCV:

RCV000597524

RCV000723454

RCV001249042

ClinVar Variation:

198696

HGVS (amino-acid)	Matching Registered Transcripts
NP_000194.2:p.Thr388Lys	CA247499 NM_000203.5:c.1163C>A