Canonical Allele Identifier: PA100759
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1569
ClinVar Variation Id: 555776
ClinVar Variation Id: 2138021
ClinVar RCV Id: RCV003050471

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000254.2:p.Phe48Leu
CA115052
NM_000263.4:c.142T>C
CA290771267
NM_000263.4:c.144C>A
CA399595410
NM_000263.4:c.144C>G