ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828097159
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_001350505.1:p.Ser139Phe
CA2802101
NM_001363576.1:c.416C>T