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: PA2828097385

Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 92627

ClinVar RCV Id: RCV000078375 RCV000327434 RCV000418377 RCV000722002

ClinVar Variation Id: 1084956

ClinVar RCV Id: RCV001402162

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350505.1:p.Gly277Arg	CA248659 NM_001363576.1:c.829G>C CA91169920 NM_001363576.1:c.829G>A