ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802866
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502243
ClinVar RCV Id:
RCV000595653
RCV000668685
RCV001248917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Leu308Pro
CA2802119
NM_000203.5:c.923T>C