Allele Registry

Canonical Allele Identifier: PA1139745523

Gene: GNPTAB HGNC NCBI

ClinVar Variation Id: 991613

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Leu151Arg	CA6746877 NM_024312.5:c.452T>G