ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057578318
Gene: IDUA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003085008
ClinVar Variation:
2169787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Ser16_Ala19dup
CA91144645
NM_000203.5:c.46_57dup