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: PA100708

Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 554081

ClinVar RCV Id: RCV000669643

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000254.2:p.Leu617Phe	CA399605130 NM_000263.4:c.1851G>T CA399605132 NM_000263.4:c.1851G>C