ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580109291
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1980496
ClinVar RCV Id:
RCV002761384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Asp570Val
CA355965255
NM_000203.5:c.1709A>T