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: PA2828097244

Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 2432767

ClinVar RCV Id: RCV003133653

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350505.1:p.Asn199Lys	CA355962982 NM_001363576.1:c.597C>G CA355962984 NM_001363576.1:c.597C>A