ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828097707
Gene: IDUA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000672407
RCV001380047
RCV002499181
ClinVar Variation:
556406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350505.1:p.Ser501Leu
CA355966010
NM_001363576.1:c.1502C>T