Allele Registry

Canonical Allele Identifier: PA2580456876

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV002785624

RCV003331392

ClinVar Variation:

1982833

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Thr382Ala	CA6746692 NM_024312.5:c.1144A>G