ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829630445
Gene: IDS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006114.1:p.Ser117del
CA255279
NM_006123.5:c.349_351del