ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828097538
Gene: IDUA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001340242
RCV003132432
ClinVar Variation:
1037132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350505.1:p.Pro378Leu
CA91170630
NM_001363576.1:c.1133C>T