Allele Registry

Canonical Allele Identifier: PA658829675

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000666169

RCV002271552

ClinVar Variation:

551181

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Ala455Ser	CA6746648 NM_024312.5:c.1363G>T