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: PA2573165623

Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1494388

ClinVar RCV Id: RCV002014991

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000254.2:p.Phe192Leu	CA8576798 NM_000263.4:c.576C>A CA399598419 NM_000263.4:c.574T>C CA399598425 NM_000263.4:c.576C>G