ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915965705
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
640514
ClinVar RCV Id:
RCV000793555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Ser271Phe
CA2802101
NM_000203.5:c.812C>T