Canonical Allele Identifier: PA2499229632
Gene: IDUA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000194.2:p.Ser347Arg
CA355963126
NM_000203.5:c.1039A>C
CA355963129
NM_000203.5:c.1041C>A
CA355963131
NM_000203.5:c.1041C>G