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: PA2828097246

Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 990983

ClinVar RCV Id: RCV001279107 RCV003132373

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350505.1:p.Leu200Pro	CA355962990 NM_001363576.1:c.599T>C