Allele Registry

Canonical Allele Identifier: PA113404

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000032318

RCV002514130

ClinVar Variation:

39053

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Trp81Leu	CA343374 NM_024312.5:c.242G>T