Allele Registry

Canonical Allele Identifier: PA149258

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000058936

RCV000082193

RCV001084285

RCV001110620

RCV001110621

ClinVar Variation:

68107

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Glu1200Lys	CA149257 NM_024312.5:c.3598G>A