Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2829630448

Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 1420774

ClinVar RCV Id: RCV001923583

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006114.1:p.Thr118Ser	CA414526083 NM_006123.5:c.353C>G CA414526091 NM_006123.5:c.352A>T