ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247500
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198696
ClinVar RCV Id:
RCV000597524
RCV000723454
RCV001249042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Thr388Lys
CA247499
NM_000203.5:c.1163C>A