ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828097242
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167190
ClinVar RCV Id:
RCV000180108
RCV000208605
RCV000790804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350505.1:p.Ala195Pro
CA234128
NM_001363576.1:c.583G>C