Canonical Allele Identifier: PA1139681539
Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 968173
ClinVar RCV Id: RCV001243248
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000194.2:p.Asp397Glu
CA355963517
NM_000203.5:c.1191T>A
CA355963518
NM_000203.5:c.1191T>G