Allele Registry

Canonical Allele Identifier: PA645462973

Gene: NAGLU HGNC NCBI

ClinVar Allele:

274815

ClinVar RCV:

RCV000284729

RCV000765355

RCV001124069

RCV001252583

ClinVar Variation:

290578

HGVS (amino-acid)	Matching Registered Transcripts
NP_000254.2:p.Ala480Thr	CA8577019 NM_000263.4:c.1438G>A