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: PA2573184264

Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 1521407

ClinVar RCV Id: RCV002027870

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001160022.1:p.Phe26Val	CA414526142 NM_001166550.4:c.76T>G