ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA108208
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496861
ClinVar RCV Id:
RCV000592777
RCV000723457
RCV000780349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Pro496Arg
CA2802275
NM_000203.5:c.1487C>G