Allele Registry

Canonical Allele Identifier: PA645390671

Gene: GNPTAB HGNC NCBI

ClinVar Variation Id: 393114

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Ala707Thr	CA6746472 NM_024312.5:c.2119G>A