ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645417529
Gene: IDUA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000323838
RCV001248897
RCV001267071
ClinVar Variation:
286242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Ser633Trp
CA10605410
NM_000203.5:c.1898C>G