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: PA2825081801

Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 2490676

ClinVar RCV Id: RCV003215456 RCV003621687

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000193.1:p.Val311Leu	CA414520249 NM_000202.8:c.931G>C