ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108283
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496834
ClinVar RCV Id:
RCV000592196
RCV000723433
RCV001215791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Thr388Arg
CA91169370
NM_000203.5:c.1163C>G