Allele Registry

Canonical Allele Identifier: PA113294

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000002889

ClinVar Variation:

2762

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Asp407Ala	CA340006 NM_024312.5:c.1220A>C